PKD: The Fight Continues, Spain: Organ Transplant Leader, Re-Thinking Dialysis, PKD Genetics: PMM2 Mutation, PKD in Italy: Costs of Care,

PKD Fundraising

From ABC Action News, Tampa Bay, FL, by Ashley Yore

Fight to cure debilitating kidney disease continues after miracle kidney donation

We have a heartwarming update to a story we first told you about back in 2015. You may remember, a Tinder date, not making a love connection, but brining together a kidney donor with a woman in desperate need. That kidney recipient is doing much better, but the fight to cure Polycystic Kidney Disease is still going strong.

Richard O’Dea just ran the Boston Marathon.

“When there’s pain, you’re struggling through the race, and you think about all the people that you run for,” O’Dea said.

One person he’s running for is Erika Bragan, a close friend with Polycystic Kidney Disease, who received a badly-needed kidney back in 2015. O’Dea helped make that donation happen.

“I can’t believe it, I mean I still sit here and I have the most beautiful kidney put into my body from someone I did not know,” Bragan said.

That donor was someone O’Dea met on Tinder, and while their romantic relationship didn’t last, Bragan got a new kidney and a close friend.

“Now it’s just, it’s a whole new world,” she said.

“I like to think I was in the right place at the right time,” O’Dea said.

“It’s amazing to me to have someone just put not only their time and effort but a piece of them out there and say this is how I’m going to help you have a better life,” Bragan said.

Now that life is much better, the fight to cure PKD continues. O’Dea will run another marathon in Chicago in October.

“I don’t know if its fate it’s hard to describe but it’s definitely a blessing in my life,” O’Dea said.

Team Tampa PKD will also be involved with the Walk for PKD at Fort Desoto Park October 14, 2017.

Since inception, they have competed in 9 major marathons as part of the Run for PKD and raised $140,000 for the PKD Foundation.

Living with PKD

From The Express Tribune

How Spain became the world leader in organ transplants

MADRID:
Juan Benito Druet has just learned that his life may be about to change. In the next few hours he will receive a healthy kidney thanks to a pioneering system that has made Spain the world leader in organ transplants for the past 25 years.

“We don’t know what will happen. but you have to take a chance,” said Druet, 63, a reserved and moustachioed boilermaker, as he lays in his bed at Madrid’s La Paz hospital. Hospital staff try to reassure him by telling him organ transplants are carried out every day in Spain.

FIA empowered to curb human organ trafficking

Doctors performed 4,818 transplants last year, including 2,994 kidney transplants, according to the health ministry’s National Transplant Organisation (ONT). That means there were 43.4 organ donors per million inhabitants last year, a world record, up from 40.2 donors in 2015. By comparison in the United States there were just 28.2 donors per million inhabitants in 2015, 28.1 in France and 10.9 in Germany, according to the Council of Europe.

“It is even better than if we had won the jackpot in the lottery,” says Druet’s wife Jeronima, 60, as she sits close to him along with the couple’s two adult children. Now she dreams of going on a cruise with her husband, something impossible as long as he needed to be hooked to a 15-kilo kidney dialysis machine every night to filter his blood.

The transplant operation lasts four and half hours. Surgeons make a 15-centi metre incision in Druet’s abdomen to transplant a healthy kidney extracted the night before from a woman who died.

After a transplant patients “start to regain weight, their health improves. It is as if we transplant lives,” the founder of the ONT, Rafael Matesanz, tells AFP.

Matesanz oversaw the implementation of a centralised and well-oiled organ donation and transplant system which has been replicated in Portugal and Croatia and inspired others across Europe. Each hospital has a transplant coordinator, usually a doctor or nurse who specialises in intensive care, charged with identifying patients at risk of a heart attack or brain death. In both situations kidneys, livers, lungs, pancreas and sometimes even the heart can still work and can be transplanted.

Illegal Kidney Trade: Two suspected organ traffickers held

Organ donations are quickly reported to the ONT which searches for the best match from its organ waiting list. If the patient is far away, a cooler with the organ is sent by plane inside the cockpit with the pilot.
The operation is free under Spain’s public health system, anonymous and available only to residents of the country to avoid organ trafficking.

“What makes the difference is the organisation of the system. This network, this centralisation, is the key,” says Marie-Charlotte

Bouesseau of the World Health Organisation’s department of ethics.
Worldwide only about 10 per cent of all patients who need a transplant receive a donated organ, she adds. “That means that 90 percent will die while they are on a waiting list,” she explains. In Spain only four to six per cent of patients died in 2016 while they were on a waiting list for a vital organ – a liver, heart or lung.

Ramon Garcia Castillo, 85, a former TV technician, spent 13 months on dialysis before he received a kidney transplant in 2010. He would previously trek to a hospital three times a week to be hooked up to a machine for three-and-a-half hours. The kidney transplant “gave me my life back”, says Castillo, who now just needs to take pills to ensure his body does not reject the donated kidney.

The other secret to the success of the Spanish system is training and communication, explains Matesanz. Since it was set up in 1989, the ONT has trained over 18,000 transplant coordinators who break the news of a person’s death and then gently convince their loved ones to agree to donate their organs.

Scientists discover new organ in human body

Spanish law presumes consent for organs to be removed on their death unless they had previously made clear that they were against donation. But loved ones are systematically consulted.

“You have to have a lot of empathy, sensitivity, respect,” says Belen Estebanez, the transplant coordinator at Madrid’s La Paz hospital.

The work of a transport coordinator was depicted in Spanish director Pedro Almodovar’s 1999 Oscar-winning movie “All About My Mother”. The director consulted with the ONT to prepare the movie.

“If they have a lot of doubts we ask them what the person was like, if they were generous. From there we get them to reflect on an organ donation,” adds Damiana Gurria, another transplant coordinator. “It comforts many families to know that the organs of their loved ones will live on inside someone else, that people will be thankful for the rest of their lives.”

Castillo said he drinks two litres of water each day and follows a balanced diet since he received his new kidney. “I have to take care of it, especially since it was given to me. I have to be thankful.”

From DovePress, by Luca Degli Esposti, Chiara Veronesi, Valentina Perrone, Stefano Buda, Antonio Santoro  Clicon S.r.l. Health, Economics & Outcomes Research, Ravenna, Italy;  Department of Nephrology and Dialysis, Policlinico S. Orsola-Malpighi, Bologna, Italy

Healthcare resource consumption and cost of care among patients with polycystic kidney disease in Italy

Objective: The aim of this study was to assess healthcare resource consumption and its associated costs among patients with polycystic kidney disease (PKD) in a real-world setting.
Methods: An observational retrospective cohort analysis was conducted using data from the administrative databases of four Italian local health units. Data for patients who were diagnosed with PKD during the inclusion period (January 1, 2010 to December 31, 2012) were extracted. The date on which a patient’s first PKD hospitalization occurred during the inclusion period was defined as the index date (ID), and the ID was defined as the date of the first dialysis treatment recorded during the inclusion period for patients undergoing dialysis. Data regarding the clinical characteristics of patients included in the study during the 12 months prior to the ID (pre-ID; characterization period) were collected. All patients were then followed up for the 12 months following the ID (post-ID; follow-up period). Healthcare consumption and its associated costs were analyzed during the follow-up period. All costs are reported in euros (€).

Results: A total of 1,123 patients with PKD were included in this study, 61.9% of whom were male; the mean age of the patients was 57.7±24.5 years. At diagnosis, 11.2% and 1.1% of patients were affected by the dominant and recessive forms of PKD, respectively. Approximately 8% of the included patients were undergoing dialysis at ID (baseline). The incidence of dialysis was fourfold greater among patients with autosomal-dominant PKD (ADPKD) than among the total cohort (33.3% compared with an overall 8.3%). During the follow-up period, the average annual rates of healthcare resource consumption were greater among dialyzed than non-dialyzed patients. The average healthcare expenditures were €45,059.62 and €3,913.89 (p<0.001) per year for dialyzed and non-dialyzed PDK patients, respectively. Our findings suggest that in the real-world Italian context, consumption of healthcare among patients with PKD has increased at dialysis initiation due to the cost of outpatient specialist healthcare services as well as other costs. Research on the prevention of PKD-related complications and disease progression may help to facilitate a decrease in the costs associated with this condition.

From The Boston Globe, By Felice J. Freyer

Rethinking dialysis: Giving patients choices

Catherine Burgoyne hated what was happening to her. At the age of 92, she had suddenly lost her cherished independence. A fall led to kidney failure, which led to dialysis, which led to the need to tie her wrists to the hospital bed rails.

In those days, she was often confused and would try to rip out the tube in her chest, implanted to enable dialysis. But her words and grimaces left no doubt that she could not bear the restraints, or her complete dependence — a life so different from what she had known just weeks earlier.

Burgoyne had chosen her nephew and his wife, Robert and Nancy Tucker, to make health care decisions if she could not. Now, her nephew spent hours at her side, distraught over her misery, anguished by the choice before him. Her hands could be freed if dialysis stopped. But dialysis was keeping her alive.

She was among the growing number of very old and very sick people who end up on dialysis, a procedure that filters toxins and other substances from the blood.

But as more elderly people suffer kidney failure, new data reveal a troubling pattern for dialysis patients: A high percentage die anyway, and even those who live longer often don’t live well. That has led some patients and doctors to consider what once might have been unthinkable: disconnecting the dialysis machine.

“We used to think, ‘Dialysis, it’s great. You get more life. You get more days. Let’s do it,’ ” said Jody Comart, director of palliative care for Hebrew SeniorLife, a Greater Boston nonprofit that provides an array of services to aging patients. “But now we understand, ‘Well, you get more days. But three days [a week] are taken up by dialysis and exhaustion and feeling crummy and you are likely to have several hospitalizations each year due to complications.’ ”

Dr. Ernest Mandel, medical director of nephrology and dialysis at Hebrew SeniorLife, said that too often dialysis is the default response to kidney failure, occurring without discussion. Patients have no idea what they’re getting into — or that they could choose another route.

Most cases of kidney failure in this country are caused by diabetes and hypertension, conditions that erode kidney function gradually over many years. Burgoyne’s illness was more sudden.

Alone in her apartment in a Foxborough senior housing project, she fell one night about a year ago. By the time a neighbor found her, she had been lying on the floor for a day or two. During those long hours without food or water, her muscles broke down and released toxins that damaged her kidneys.

She was admitted to a hospital intensive care unit, bruised and disoriented. As so often happens, Burgoyne started dialysis in a crisis — doctors call it “crashing into dialysis.” There was hope it would be temporary, that her kidneys might revive.

After a couple of weeks in the hospital, Burgoyne was admitted to the medical acute care unit at Hebrew SeniorLife, which takes care of people too sick for a nursing home but not needing a full-service hospital. Although she’d been living independently, she had a heart pacemaker, chronic obstructive lung disease, and high blood pressure, among other ailments, said Anne Carr, a nurse practitioner who cared for her at HebrewLife.

As the weeks went by, the hope for improvement waned. “We didn’t know if there was a recovery in her future,” Carr said.

Burgoyne’s wrists were tied to the bed rails all the time, because she was in danger of ripping out the permanent catheter needed for her three-times-a-week dialysis.

Tucker talked to his aunt about ending dialysis. “Do you understand what it means if we stop this? This is what is keeping you alive.” She responded with a kind of shrug, which he took to mean, “It is what it is, nothing I can do.”

In 2014, some 420,000 Americans were on dialysis at any given time, and that number has almost surely increased. Those older than 75 are the fastest-growing group of dialysis patients. Medicare spends about $88,000 annually per patient for dialysis and related services.

Dialysis has long been considered a necessary response to kidney failure, a life-saving and life-prolonging procedure. The patient’s blood is passed through a machine that removes electrolytes, toxins, and excess fluid. Younger people who are otherwise healthy can have full lives and even hold jobs while on dialysis.

Although the dialysis machine filters the blood, it doesn’t do as good a job as real kidneys. It often doesn’t even relieve the symptoms of kidney failure, which can include nausea, shortness of breath, muscle cramps, itching, tiredness, and lack of appetite. In many, dialysis induces a bone-deep fatigue. Patients also have to travel to a clinic three times a week, and spend three or four hours hooked to the machine.

To make matters worse, older people and people with multiple illnesses are prone to infections, clots, and other problems that can lead to repeat hospitalizations. Often, their health declines, and they lose the ability to manage daily activities such as bathing.

No wonder surveys have found that a majority of patients on dialysis regret starting it.

Dr. James A. Tulsky, chief of the division of palliative medicine at Brigham and Women’s Hospital, said he worries many dialysis patients would choose otherwise, if they were better informed at the outset.

“The typical answer is, ‘What else can I do?’ The answer is, there might be other options . . . and if you don’t like it, you may have the option to stop it,” he said.

A 2012 study of patients with end-stage kidney disease found that those who underwent dialysis lived 404 days longer than those who decided against the procedure. But 326 of those extra days were spent undergoing dialysis, and an uncounted number were lost to hospitalization.

Notably, for those older than 75, dialysis does not always result in any additional days of life. Studies in the Netherlands and the United Kingdom have shown that elderly patients who forgo dialysis often live about as long as those who choose the procedure.

American kidney doctors — known as nephrologists — need to change their approach, said Mandel, the Hebrew SeniorLife nephrologist. “We tended to wash our hands of the patient if they didn’t want dialysis,” he said.

Instead, he said, the decision should not be a matter of accepting or rejecting dialysis but choosing among transplantation, dialysis, or what is known as “conservative management” — a method of treating kidney disease focused on relieving symptoms and adjusting medications and lifestyle to preserve kidney function.

And then, he added, patients need to have continuing conversations about whether to change course. Stopping dialysis can be a weighty decision. Patients whose kidneys have become dependent on dialysis die quickly when it is withdrawn, within seven or eight days on average.

Although dialysis is expensive, the question of whether conservative management saves money has not been adequately studied. In any case, Mandel said, the main point is to improve patients’ quality of life.

Mandel thinks the decision to put Burgoyne on dialysis after her fall was reasonable, given the severity of her kidney failure and the hope for recovery. But, he said, she might have benefited from a conversation about what dialysis would entail and when to consider stopping it.

Once she was admitted to Hebrew SeniorLife, Burgoyne and her nephew had a chance for many conversations about her options. They were offered a service that few kidney patients get — palliative care, a team-based approach to managing serious illness that focuses on quality of life.

Palliative care is similar to hospice in that it works to treat symptoms and keep patients comfortable, but patients are not necessarily dying and can pursue curative treatments.

Traditionally, palliative care has been employed to help cancer patients in the hospital. But its practitioners are recognizing that other types of patients can benefit, too — especially those with kidney failure. The palliative care team can help patients assess whether to start or stop dialysis, and can manage the symptoms in whatever path the patient chooses.

In Burgoyne’s case, the team — doctor, nurse practitioner, social worker, and chaplain — weighed Burgoyne’s prognosis and talked with Tucker about what he thought was best for her. Did it make sense to keep doing dialysis?

“Many patients who have started dialysis, they do wonder about their prognosis. They want to talk about end of life,” said Dr. Jane Schell, professor at the University of Pittsburgh School of Medicine and one of very few doctors who specialize in both palliative care and nephrology. “We’re not asking them. We’re not inviting that conversation.”

Nephrologists and palliative care specialists are both starting to step up. Schell has noticed that many nephrologists-in-training are now making a point of acquiring palliative care skills, and medical educators are recognizing its importance.

And in Boston, the Brigham plans to start an outpatient palliative care program specifically for kidney patients. It will be one of only a handful in the country, said Tulsky, the palliative care chief.

Companies that run dialysis clinics are also getting involved.Dialysis Clinic Inc., a national nonprofit provider, has undertaken six demonstration projects that enlist help from palliative care and hospice practitioners. These programs emphasize educating patients early about their illness and their options, before a crisis. The options can include transplantation or learning to dialyze at home.

The 92-year-old Burgoyne, frail and confused, was not a candidate for either options.

Burgoyne had been the “live wire” aunt in a big family. Divorced and childless, she baby-sat her eight nieces and nephews, and then years later took care of their children. As Tucker weighed the decision, he kept in touch with his siblings and cousins.

Tucker spoke often with the care team, particularly with her attending physician, Dr. Natalya Vorontsova. “She’d say, ‘There’s no easy to this. There’s only hard,’ ” he recalled.

Finally, he made the hard decision. Tucker told his aunt she would have one more dialysis session and the restraints could come off. She was delighted.

Tucker made arrangements to move Burgoyne into a hospice service at a nursing home in Westwood. Few kidney patients get to take full advantage of hospice, because in most cases Medicare does not cover hospice when the patient is on dialysis. And when the patient stops dialysis, death typically comes in about a week.

It’s a gentle death. The patient becomes groggy, falls asleep, and doesn’t wake up.

Tucker told his relatives that now was the time to say goodbye. She had just a few days.

But Burgoyne was in no rush. She loved the new facility, Clark House at Fox Hill Village, and lingered happily for a month. In early July, three months after her fall, the hospice called to say that the end was near. Tucker, his wife, and his sister came to her side. They held her hand for her final hours.

“It was very sad,” Tucker said.

But it was peaceful, for Burgoyne — and for Tucker, too, who knew he’d made the right decision. Reflecting on it nearly a year later, he said, “At the end, I felt OK.”

PKD Research

From Nature.com, by Ellen F. Carney

PMM2 mutation causes PKD and hyperinsulinism

Researchers have identified a previously undescribed genetic disorder that presents with hyperinsulinaemic hypoglycaemia (HI) and polycystic kidney disease (PKD) in childhood (HIPKD). They report that this disease is caused by a promoter mutation in PMM2, which encodes the N-glycosylation enzyme phosphomannomutase 2.

PKD Patients Seek Kidney Donors: BigDumbKidneys.com, The Big Ask, Kidney Facts,

Living with PKD

From Yahoo Finance

Gene and His Big Dumb Kidneys Launch Search for a Living Donor

Gene Okun, a 50-year-old renewable energy consultant and former competitive body builder, lives with polycystic kidney disease (PKD), a genetic disease that causes uncontrolled growth of cysts in the kidney and can eventually lead to kidney failure. Since receiving a diagnosis of PKD, Gene's kidneys have grown big (doctors say they may be the world's biggest) and dumb (since they're now only functioning at 18%). Today, Gene and his big, dumb kidneys launched a new campaign to raise awareness of kidney disease and the life-changing impact of becoming a living kidney donor. With help from his family and friends, Gene introduced BigDumbKidneys.com to inspire people to learn more about PKD and kidney donation.

"Polycystic kidney disease varies greatly in its severity, and there are a number of symptoms and complications associated with this disease," said Terry Watnick, M.D., from the University of Maryland School of Medicine. "Raising awareness of PKD and the need for a drug treatment is important. I hope more people understand the impact the disease has on patient lives."

Gene's large and low-functioning kidneys quite literally get in the way of normal activities. Daily routines like eating, sleeping and even a simple hug are extremely difficult. The Big Dumb Kidneys campaign videos bring to life specific instances that can be awkward and uncomfortable with the constant accompaniment of two big and dumb kidneys.

"We applaud Gene's efforts to raise awareness for this severe, life-threatening disease," said Andy Betts, CEO of the PKD Foundation. "Our mission is to find treatments and a cure for PKD and to improve the lives of those it affects. We do this through funding programs of research, education, advocacy, support, and awareness on a national level, along with direct services to local communities across the country. We look forward to working together toward a new treatment."

Currently, more than 93,000 people are waiting on kidney transplant lists in the U.S. The wait for a deceased donor could be five years, and in some states, it is closer to 10 years – time that Gene and his kidneys just do not have.

"For many years, I watched my father struggle with PKD, the burden of relying on dialysis, and the many complications of this genetic disease that eventually contributed to his passing," said Gene. "My dad always made the best of every situation. I'm determined to do the same by motivating people to learn about kidney disease and the process of becoming a living kidney donor. People have questions about becoming a donor. With help from my big, dumb kidneys, I want to give them information and help connect them with people in need."

"I don't want to lose my brother the same way I lost my dad," explains Gene's sister, Tina Okun. "We have a big goal – to find Gene a kidney, to keep him healthy and alive, so that he can continue to make a difference in this world."

To discover more about becoming a donor or to help Gene in his search for a live kidney, please visit BigDumbKidneys.com or follow on Facebook and Instagram @BigDumbKidneys and with the hashtag #BigDumbKidneys.

Gene's Big Dumb Kidney Campaign

I launched this Big Dumb Kidney campaign with my sister Tina to find a living kidney donor and raise awareness of polycystic kidney disease and other kidney diseases that affect millions of men, women and children in the U.S. and around the world.

We are grateful to our friends, families, colleagues and business partners who are contributing their creativity, energy and skill to make this campaign possible. We especially recognize the people at SmithSolve, Second Melody, The O'Hara Project, Dave Patino Photography, SmartWorld Coffee, and the talented actors who portrayed my kidneys: Dumb and Big. We would also like to thank the dozens of physicians, donors, recipients and leaders of patient organizations who are providing input, advice and support on this journey.

Together we can find a living kidney donor and help others fight kidney disease. Thank you in advance for your blessings and prayers.

From The Vancouver Sun, Canada

'It's a big ask': Hundreds of kidney donors needed in B.C.

Glenn Miller needs a new kidney. But so do 513 other British Columbians.

The single dad from Pitt Meadows was born with polycystic kidney disease, the same genetic condition that required his mother to undergo a kidney transplant 25 years ago.

Miller, 51, works in sales and is raising 10-year-old twin boys while in end-stage renal failure.

The next step is dialysis and the years-long wait list for a deceased donor’s kidney — unless, doctors say, he can find a living donor.

“Once this started, I’m told I had to find somebody,” said Miller. “It’s a big ask to ask a friend, to say, ‘Hey, what do you think about giving me a kidney?’”


He has asked a few close friends and family members, but without success.

His girlfriend of five years, Cindy Seitz, volunteered to give him one of her kidneys but she was disqualified as a donor because a CT scan found cancer in her liver.

A couple of years ago, Miller put out a plea on Facebook. No one responded. Embarrassed, he deleted it a few days later.

Now he’s trying again, bolstering the ask with a shareable photo of himself and some basic information: age, blood type, a link to his website and the query: “Got kidney?”

Kidneys are the most wanted organ in B.C. Out of the more than 600 people on the province’s transplant list in 2016, about 80 per cent were waiting for a kidney.

Appeals like Miller’s have become increasingly common, partly because of how people communicate in the social media era, but also because of an increased push by doctors to get patients with chronic kidney disease a new organ earlier in care — before they go on dialysis or on the list for a kidney from a deceased donor. B.C. Transplant says it’s trying to increase its live kidney donation numbers.

Studies show living donation leads to better health outcomes for the recipient and significant savings for the health-care system as the patient avoids or gets off dialysis, which costs about $80,000 a year.

While the number of transplants using a kidney from a cadaver has almost tripled from 63 to 173 over the last decade in B.C., the number of transplants using a kidney from a living donor has stagnated over the same period. Last year, 95 such transplants were performed, compared to 110 in 2015. The 10-year average is 109.

The shift toward living donation puts the onus on patients to find their own donor kidney.

For some, it’s a tough ask.

“Some people are very comfortable, but other people are very reluctant to ask,” said Dr. David Landsberg, provincial medical director of transplant services for B.C. Transplant.

“Part of our strategy is to work with patients and their families for strategies on donor outreach,” he said. “How do you frame the question? How do you get the word out and not make people feel uncomfortable or obligated and potentially jeopardize relationships?”

Some people, after trying family members or friends, turn to public appeals. Public solicitations may get a lot of attention, but it is unclear how effective they are at finding a successful donor.

There are drawbacks, such as a loss of privacy. Public appeals also raise issues of fairness, said Landsberg, in cases where “someone has a very compelling story that might be more attractive to the public than somebody who doesn’t … Typically, if it’s a child, for example, we get lots of calls.”

Last fall, the Canadian Society of Transplantation produced a position paper acknowledging issues around public solicitation, but concluded the benefits outweighed the concerns. It was “ethically and legally acceptable” for transplant programs to consider potential living organ donors found through public solicitation so long as there is no financial gain involved, it said.

Heather Johnson, program director of the B.C. and Yukon chapter of the Kidney Foundation of Canada, encourages all types of appeals, including public solicitations.

“We would say whatever works,” said Johnson, whose organization is working to increase donation rates by 50 per cent in five years.

“You got to get creative” to get the message out, whether it’s on social media or on a personal blog, on a T-shirt or a funny pin that kickstarts a conversation about kidney donation, she said.

“I don’t think there’s a problem as long as there’s no financial concerns (buying and selling organs is illegal in Canada) and there is informed consent.”

Landsberg says it is rare for solicitations to lead to a donor who is a complete stranger. “People are much more likely to come forward when there is a connection,” he said.

In 2013, Victoria’s Kevin Campbell took to wearing a T-shirt emblazoned with “I need a kidney.” He eventually found a donor, a distant relative who lived in Alberta, through social media.

Another family who lived in Metro Vancouver took out an ad in a paper looking for a donor for their three-year-old child. In the end, a family friend came forward.

In a recent case, Castlegar mom Jana Tremblay put out a Facebook post searching for a donor for her 14-year-old son Zach. Her post was shared more than 7,000 times. A former childhood friend with whom Tremblay reconnected on Facebook offered to donate her kidney to the teen. The transplant is scheduled for June.

The number of unrelated donors in living kidney donations is on the rise, said Landsberg.

In 2015, 44 per cent of living kidney donors were biologically related to the recipients, 43 per cent were unrelated, and 13 per cent were part of kidney paired exchange donations, which are kidney swaps that occur when a living donor is incompatible with the recipient and exchanges kidneys with another donor/recipient pair. In 2006, 65 per cent of living donors were biologically related to the recipients and 34 per cent were unrelated.

Anonymous donations, or donors who give up their kidney without a recipient in mind, are rare. Last year, only three such transplants were performed in B.C., and six in 2015. [Read more]

From The Sun Daily, Malaysia, by S. Indra Sathiabalan

Facts on chronic kidney disease

EARLIER this year, I lost an uncle to chronic kidney disease (CKD), a condition in which a person suffers a gradual loss of kidney function over time.

My uncle was a vibrant self-made man who made the most of his life, before kidney failure (­related to his diabetes) resulted in ­agonising regular dialysis sessions that he hated. However, it was not enough to save him.

Like me, there are many people out there who have lost a loved one to CKD, or perhaps know of someone who is suffering from this disease.

The public should be aware that the number of cases of CKD has been on a rise in Malaysia. According to the 22nd Report of the Malaysian Dialysis and Transplant Register (2014), there has been over
100% increase in the number of new dialysis patients in Malaysia over the past 10 years.

At the end of 2015, nearly 40,000 Malaysians required r­egular dialysis, with 90% of them requiring haemodialysis ­treatment three times a week.

Nephrology specialist Dr Wong Mun Hoe (top right, inset) from Pantai Hospital Klang, who is also a certified member of the Renal Board (Malaysia), sheds some light on this serious medical condition during an email interview.

What are the common causes of CKD? Who are the people at risk?

"According to the ­Malaysian ­Dialysis and Transplant ­Registry (MDTR), the most c­ommon cause of kidney failure among patients who are on dialysis is ­diabetes ­mellitus. This is ­followed by ­hypertension.

"Other causes ­include ­kidney stones, ­glomerulonephritis (acute inflammation of the kidney, typically caused by an immune response), ­polycystic kidney disease (numerous cysts growing in the kidneys), and drugs.

"People who are at risk of CKD include the elderly (above 65 years), and those with diabetes mellitus and hypertension."

What are the symptoms we should be looking for?

"Unfortunately, only kidney failure at its most severe form will present with symptoms.

"These include poor appetite, nausea, vomiting, difficulty breathing, leg swelling (usually both legs), and [fatigue].

"Most patients do not usually have these symptoms in early stages of CKD."

Is CKD reversible?

"The term, chronic ­kidney disease, ­denotes that this is a long-term problem and not ­reversible.

"CKD is ­classified into five stages – one being mild, and five being severe – and will require renal replacement therapy."

Do genetics play a part?

"Polycystic kidney disease (PKD), as a cause of CKD, has a genetic predisposition. Diagnosis is made using a specific criteria.

"The nephrologist will usually screen family members if one of them is found to have this condition."

It is said that those undergoing haemodialysis generally are living on borrowed time. Is this true, and if so, why?

"I would say the patients who undergo ­haemodialysis are given a second chance at life.

"Not ­everyone is ­suitable for ­haemodialysis, and the ­nephrologist has to evaluate each patient individually to determine the most suitable ­modality for ­renal replacement therapy (haemodialysis, peritoneal ­dialysis, kidney transplant or conservative therapy).

"Besides extending the life of an individual, we also take into account the quality of life of the patient after the initiation of dialysis."

How safe is a kidney transplant?

"Kidney transplant is the best option for renal replacement therapy, and provides best long-term survival.

"Malaysia has been performing kidney transplants since 1975. One cannot deny that there are risks (surgical, ­anaesthetic, rejection of donor kidney, infection, etc).

"However, the long-term ­benefits outweigh these risks as the patients have the opportunity to live a normal life.

"Safety is of paramount importance. ­Recipients of kidney ­transplant and donors are ­carefully evaluated to reduce the risks.

"Kidney transplants are offered in government ­hospitals as well as some private hospitals."

Do products sold in the market to detox the body add strain to our kidneys?

"If you ask any nephrologist, there is no such thing as a drug/product/supplement that can cure or reverse kidney failure.

"It is sad that people take advantage of those with CKD by offering them an alternative hope which is deceiving and futile.

"Kidneys age with time, and chronic diseases such as ­diabetes and hypertension or non-­prescription/prescription drugs can accelerate this process.

"Some of these unregulated compounds contain heavy metals, ­colouring, and preservatives which are ­harmful to the kidney and are not ­commonly tested until an adverse event has been reported.

"Common prescriptive drugs such as non-steroidal ­inflammatory drugs (NSAIDs) can also contribute to kidney damage."

What can we do to keep our kidneys functioning in a healthy manner?

"It is important to identify people who are at risk of kidney failure.

"Those aged above 65 years, have underlying diabetes mellitus, hypertension, or family history of kidney disease should be screened on a regular basis.

"Early treatment of CKD ensures longer survival of the kidneys.

"Avoid taking ­unnecessary supplements and abuse of NSAIDs.

"For those who are well, the general principles of healthy living including drinking plenty of water, a balanced diet and regular exercise will ensure that your kidneys continue to function in a healthy manner."

Dialysis and Engineering an Artificial Kidney Update, Dialysis Ethics

Kidney Research

From Engineering.com, by Michael Molitch-Hou

How to Engineer a Kidney

In 1982, a young student named Dahai Ding sat glumly in his classroom at Worcester Polytechnic Institute when his English professor, Kay Draper, asked him about what appeared to be a deep depression. He told her that his sister, Dadi Ding, was stuck in China, suffering from end-stage kidney disease, where, without access to dialysis or a kidney transplant, she would die.

It was then that Draper was introduced by the dean of the university to my mother, Dr. Susan Hou, then a nephrologist at Tufts University. Along with my family and her local community, Draper launched a campaign to get Dadi to the United States, where she would receive her first kidney transplant.

Kidney transplants and dialysis are the only methods for treating kidney failure. These solutions, however, have proven problematic for numerous reasons, causing researchers to explore new ways of treating kidney failure, including the construction of artificial, biomechanical kidneys or bioprinting new organs from the patient’s own cells.

Such exciting treatments aren’t yet available to kidney patients, but many people are eagerly waiting for science fiction like artificial and bioprinted kidneys to become a reality. To learn about these technologies and how they could play a role in the lives of people like my godmother, Dadi, and my own mother, I spoke to a variety of researchers in the field.


A Kidney Patient in China

Jump back to 1956, in Shanghai. Dadi and her family learned that she had kidney problems when she was just two years old, because there was blood in her urine. Her doctor’s treatment involved a mix of herbal remedies and Western medicine, but the treatment was not successful, and every time she caught a cold, the disease would be exacerbated. The situation did not change until she was about eight years old, when she met a doctor who tried to strengthen her immune system and, therefore, reduce the frequency with which she would have a cold and blood in her urine. The treatment seemed to work for sometime, but, when the Cultural Revolution occurred, her primary doctor was sent to perform custodial work, according to Dadi. Meanwhile, Dadi’s parents, U.S.-educated professors, were sent to labor camps. A 12-year-old living alone in Shanghai, Dadi said that she sought relief from the foul-tasting Chinese herbal medicine she had to take regularly and decided to skip out on the treatment altogether.

After several years, without the proper medication, Dadi’s body became very swollen and she began excreting protein in her urine. By the time the Cultural Revolution was over and her doctor was allowed to return to his practice, there was little he could do to reverse the damage already done to her kidneys. In China at the time, dialysis was not available, while kidney transplants had only been performeda handful of times at an experimental level.

“I was admitted to the hospital and there was a girl in the same ward with me, a little bit older than me—in her twenties,” Dadi said. “And she just died. I saw her die in the bed right next to me because of exactly the same disease I had. I realized that that could be me. I saw a lot of a doctors, even went to different cities to see famous doctors, and they all said the same thing.” Without a transplant or dialysis, the consensus opinion from all of the doctors that she saw—even those considered the most qualified experts in the country—was the same: her condition was fatal.

Thankfully, Dahai was already in the U.S. where such treatments were available. Draper was able to set up a nonprofit organization with which to legally raise funds for Dadi. Japan Airlines agreed to fund half of her airfare to travel to the United States and, over the course of a couple of months, Draper managed to raise the over $40,000 necessary to perform a kidney transplant.

How Does the Kidney Work?

Made up of about one million filtering units called nephrons, the kidney is essential to filtering the waste that passes through the bloodstream, as well as participating in homeostasis in the body. Within a nephron, the glomeruli are an elaborate tuft of blood vessels that keep proteins inside the blood vessels and filter out other material.

The resulting fluid is passed through a structure called the tubule, where specialized cells in its lining reabsorb water and necessary minerals back into the body, while the remaining waste-containing liquid is sent to the bladder to be excreted as urine.

The nephrons don’t just arbitrarily reabsorb what the body needs and get rid of what it doesn’t, but do so at levels appropriate for the body to maintain homeostasis. For instance, if you drink too much water, the kidney will send more of the liquid to be excreted as urine. If you drink too little, the kidney will ensure that more water is reabsorbed into the bloodstream. The same is true for molecules like glucose and calcium. If a disease or toxin disrupts the function of the kidneys, waste may not be disposed of properly or homeostasis may be disrupted.


Kidneys in America

When you think about it, even the most rudimentary forms of organ transplant are fascinating. Taking a vital piece of one person’s body and placing it into another’s is mad science at its best, but getting those organs to work isn’t easy. Not only must the blood types of donors and recipients be compatible, but so must their human leukocyte antigen (HLA) type. HLA antigens are what enable the immune system to distinguish between one person and a foreign body, such as a transplanted organ. Once the immune system recognizes the kidney as being foreign, it treats it like bacterial in an infection and tries to destroy it.

Dahai was set to be Dadi’s donor, but the siblings learned that their crossmatch was positive. Upon introducing her blood to his, their antibodies immediately reacted to destroy the foreign element. This positive crossmatch suggested that Dahai’s kidney would be instantly rejected if it were implanted into Dadi. A transplant from her brother was not the only option, however. “In 1982, a surgeon that received a deceased donor was required to give one kidney to the national waiting list, but was able to give the other to his or her own patient,” my mother explained. “So, when a deceased donor came into Tufts, the surgeon was able to give one of the kidneys to Dadi.”

The donor kidney came from a young person who had died in a motorcycle accident, meaning that the kidney was relatively healthy. Nevertheless, it lasted only a week before Dadi’s body rejected it and the organ had to be removed. “At the time, the immunosuppressants weren’t as effective as what we use today,” Dadi told me. “A new medication called cyclosporine was in experimental trials, but not at Tufts, where I was having my transplant done.”

Dadi was then placed on the national waiting list, as she awaited another deceased donor. This process can take quite a long time; in her case, it was seven years. During that time, Dadi studied to become a nephrology nurse, got married and her life was sustained by peritoneal dialysis (PD).


Peritoneal Dialysis vs. Hemodialysis

Outside of actual kidney transplants, any technology used to treat kidney failure attempts to replicate the function of an actual kidney. This is done through the use of a system that features a semipermeable membrane for removing waste and excess water from the blood.

In the case of PD, that membrane is already in the body. PD gets its name because, to replace the function of the kidney, it relies on the peritoneum, a membrane coating the abdomen that is responsible for exchanging fluid and dissolved substances with the blood. A catheter is inserted into the abdominal cavity, which is filled with a specialty solution called dialysate. The membrane ultra filters the blood, causing waste products and excess fluid to flow into the dialysate, which is then drained and replaced with fresh solution.

While on PD and studying at nursing school, Dadi said that it was possible for her to fill her abdomen with fresh dialysate before heading to class until, after about four or five hours, she would go somewhere private, drain the waste fluid, and pour in some new dialysate once again. Although this process of continuous ambulatory peritoneal dialysis made it possible for Dadi to go about her daily life while undergoing treatment, she ultimately began to suffer from complications. The glucose in the solution caused her peritoneum to thicken to the point that it no longer functioned as an effective filter.

At this point, she switched to hemodialysis. Instead of an organic membrane within the body, hemodialysis relies on an external machine. Blood flows from a surgically altered blood vessel called a fistula in a patient’s arm into the dialysis machine, which includes a dialyzer made up of hollow synthetic fibers that ultrafilter out waste and excess fluid while dialysate cleans the blood. The cleaned blood is then returned to the body through a second needle. This process continues for three to four hours and must be performed at least three times a week to effectively clean the blood.

Switching to hemodialysis, Dadi was able to trade in the complications of PD for a whole new set. Although hemodialysis is more efficient at removing waste from the body and causes no risk to the abdomen, as with PD, it is necessary in this process for the patient to receive treatment at specific facilities overseen by trained staff.

By this time, Dadi actually became one of these trained staff members as a registered nurse who oversaw a dialysis unit. As it is for all such dialysis patients, she found it difficult to both work and dialyze three to four hours three days a week. Fortunately for her, she adopted home hemodialysis. This has allowed her to perform the treatment during flexible hours, usually at night while she tries to sleep.

Dadi explained that dialysis is only capable of removing about 15 percent of the waste that must be removed from her body. My mom pointed out that this can be improved by dialyzing longer, more frequently or through improvements in the machine technology. “The efficiency of a dialysis machine is determined by the size and how fast the blood moves through the dialyzer,” my mom explained, “as well as how big the holes are in the dialyzer. They have to be big enough to get rid of the waste, but without removing blood cells and proteins.”


The Artificial Kidney: The Future of Dialysis?

Dr. Shuvo Roy, of the University of California San Francisco, and Dr. William H. Fissell IV, of Vanderbilt University Medical Center, are in the process of developing a unique device that acts almost as a biomechanical, implantable dialysis machine. While it is mechanical in nature, the “artificial kidney” uses kidney cells and silicon membranes to replicate the function of a kidney, providing additional functions beyond current dialysis machines. I asked Dr. Roy to explain exactly how it works.

“The artificial kidney device consists of two implanted modules that work together to get rid of wastes,” Dr. Roy said. “First, a hemofilter module processes incoming blood to create a watery ultrafiltrate that contains dissolved toxins as well as sugars and salts. Second, a bioreactor of kidney cells processes the ultrafiltrate and sends the sugars and salts back into the blood. In the process, water is also reabsorbed back into the body, concentrating the ultrafiltrate into ‘urine,’ which will be directed to the bladder for excretion.”

Key to the device is the use of actual kidney proximal tubule cells, which are grown on silicon nanomembranes, according to Dr. Roy. This makes it possible for water, salts, glucose, amino acids and other small molecules to pass through the device freely. “These nourish the kidney cells, and the porous nature of the membranes also allows the cells to dispose of small wastes, such as carbon dioxide,” Dr. Roy explained. “The silicon nanomembranes also provides immunoisolation for the kidney cells. The immune system relies on fairly large molecules (antibodies) to identify and attach foreign intruders, which are a thousand times larger than small nourishing components such as glucose. These molecules are too large to penetrate the sieve of the membrane supporting the kidney cells.”

Altogether, the device may be more effective than dialysis, not only because it provides continuous blood filtration, but also because it does so with silicon nanomembranes and actual kidney cells. These silicon nanomembranes make it possible to shrink the device down to an implantable size, but also perform better than the plastic components used in existing dialysis machines. Whereas hemofilters for dialysis machines have a surface area of about 2 square meters, the silicon filters that Roy’s lab uses are one-twentieth of the size.

“Traditional dialysis machines remove blood from the patient, filter it through an external machine, and then return the blood to the patient,” Dr. Roy said. “The implanted artificial kidney will allow the filtration to occur continuously, and within the patient’s body, removing the need to be tethered to an external machine. Human kidneys conduct these functions through hundreds of thousands of kidney cells. The artificial kidney performs blood filtration through the use of silicon nanomembranes instead of polymer membranes that are used in conventional dialysis. In addition, the artificial kidney contains kidney cells in the bioreactor to provide biological functions that dialysis simply cannot.”

For the team, the long-term challenges associated with the artificial kidney are keeping it operational and troublefree after implantation. All of the potential issues won’t be known until clinical trials begin in the next year or so. For the time being, Dr. Roy is examining ways for increasing the lifetime of the kidney cells and methods for

ensuring the absence of blood clots. This includes coating the nanomembranes with molecules that make them “blood-friendly.”

As a part of a three-phase program, the lab has already established concept feasibility for externally testing the hemofilter and bioreactor in ICU patients before shrinking the size of the device so that it can be small enough for permanent implantation.

“Currently, we are in Phase II,” Dr. Roy explained. “We are working on engineering refinements to the device components, continuing experiments on the bioreactor to study the conditions that allow the kidney cells to grow and remain healthy, and we have begun a rigorous series of preclinical animal studies for the hemofilter.”

Phase III will begin in late 2017 or in 2018, at which point clinical trials of the hemofilter will begin to demonstrate the device’s safety. This may expedite clinical trials of the combined hemofilter and bioreactor design and, ultimately, pave the way for more streamlined testing of the combined device.

“Once the bioreactor has completed its own set of rigorous preclinical animal studies, we will begin the combined device clinical trials. During clinical trials, we will work with manufacturers to discuss and manage the details of production. Once the clinical trials are complete, we anticipate that the device will be available for patients shortly thereafter,” Dr. Roy said.

Although Dr. Roy’s team uses 3D printing to create plastic housing for the lab’s prototypes and evaluate surgical considerations for the implanted design, no bioprinting is currently used for the kidney cells. That possibility has not yet been ruled out, however. “Bioprinting may be an interesting tool to use in the development of the bioreactor,” Dr. Roy explained. “As bioprinting technology matures for various kidney cells, we could explore it as an advanced tactic to creating a bioartificial kidney.” [Read more]

Dialysis

From Medscape, by Tejas P. Desai, MD

Ethical Dilemmas in Dialysis Therapy: Making the Right Decisions

The Monetary Strains of Dialysis Therapy

Think of a nephrologist, and you will invariably think of dialysis. Perhaps no treatment is as synonymous with a kidney doctor as this remarkable procedure. Since its first use in the mid-twentieth century, dialysis has extended and saved innumerable lives while concomitantly helping to usher modern medicine into a new world.

In this world, many of the physiologic functions of the kidney are married with the automation of machines. Elapsing decades have seen refinements in the procedure. Years of research have culminated in an improved understanding of how best to use dialysis to achieve better clinical outcomes.

Today, dialysis machines are smaller, portable, more efficient, and safer for patients. Indeed these refinements have spread throughout the world, and more patients today have access to and receive dialysis therapy than at any time previously.

Despite these advances and the overwhelming, undeniable progress that scientists have made, dialysis therapy remains a challenging option for many patients. Perhaps that is because kidney transplantation (also starting near the mid-twentieth century) has arguably surpassed dialysis progress in two important areas: clinical outcomes and long-term financial costs. Indeed, the latter appears to be the "Achilles heel" for dialysis. The passage of time has not yielded a sufficiently cost-effective model for chronic dialysis administration. Providing modern dialysis therapy to patients is increasingly expensive no matter where in the world you are. The monetary strains are apparent to many global nephrology providers.

Couple the expense with clinical outcomes that have fallen behind those seen after kidney transplantation, and many wonder if it is time to limit the use of dialysis. A number of providers and governmental bodies have linked the outcomes of dialysis with its costs and the costs for alternative care. Many have concluded that "less bang for more bucks" does not justify dialysis administration as it currently exists.

Four Things to Consider in the Ethical Delivery of Dialysis

So can providers develop rational constraints, possibly grounded in the ethics of modern medicine, to simultaneously provide dialysis therapy to patients and ease the financial strain shouldered by those patients (or their national/local governments)? A recent publication in the Lancet tackles the issues surrounding this question.[1]

For those providers who aren't experts in medicine, a good rule of thumb to ensure that our decisions are ethically sound is to question whether we are acting in the best "interest" of our patient. I contend that the real question isn't what's in the best interest of a patient but rather what are the patient's interests.

This article touches on four areas of interest that can affect the ethical delivery of dialysis therapy. To start, the most obvious patient interest is the quality of dialysis care received. Patients and providers want to provide the highest-quality dialysis care, but in many healthcare systems, such care is costly, and those costs are borne by the providers themselves.

The authors note: "Physicians and dialysis centres might also compromise patient care to reduce costs, increase profits, or provide care to more patients." In some cases, the quality of preventive care is strikingly low because existing financial constructs disincentivize providers from investing in such strategies. No single provider can mitigate financial considerations that deter the delivery of the highest quality dialysis care. What we need are institutional or system-level changes to ensure that the patients' interest in quality of care is aligned with financing mechanisms that incentivize its delivery.

A second patient interest focuses on direct medical costs. For many patients around the world, the costs of each dialysis session are borne exclusively by them. Patients in many low-income countries (LICs) or low-middle income countries (LMICs) do not receive subsidized medical care and must pay a la carte for the dialysis therapy they receive. While the actual cost of a year's worth of dialysis is considerably less in LICs or LMICs (eg, US$3200 in India vs US$31,000 in the United States), the vast majority of patients would not be able to afford it. [Read more]

 

PKD Treatment: Tolvaptan Update , PKD Research: Genes Linked to PKD, Challenging PKD Disability Decision

PKD Treatment

From Renal and Urology News, Jody A. Charnow, Editor
Tolvaptan Offers Sustained Slowing of Renal Function Decline in ADPKD


Tolvaptan treatment has a sustained disease-modifying effect on estimated glomerular filtration rate (eGFR) in autosomal dominant polycystic kidney disease (ADPKD), but the effects of five compared to two years of treatment on total kidney volume (TKV) were not significantly different, according to a new study.

The open-label extension trial, TEMPO (Tolvaptan Efficacy and safety in Management of Polycystic kidney disease and its Outcomes) 4:4, provided an additional 2 years of data on the long-term safety and efficacy of tolvaptan on TKV and eGFR among patients completing the pivotal TEMPO 3:4 trial. In TEMPO 3:4, tolvaptan, a vasopressin V2 receptor antagonist, slowed TKV growth by 49.2% and eGFR decline by 26% compared with placebo.

Of 1445 patients randomized to TEMPO 3:4, 871 (60.3%) enrolled in TEMPO 4:4. The group included 557 patients who received prior tolvaptan (early-treated group) and 314 who received prior placebo (delayed-treated group) in TEMPO 3:4.

From TEMPO 3:4 baseline to TEMPO 4:4 Month 24, TKV increased by 29.9% in early-treated patients and 31.6% in delayed-treated patients, a between-group difference that was not statistically significant, Vicente E. Torres, MD, of Mayo Clinic in Rochester, Minnesota, and colleagues reported in a paper published online ahead of print in Nephrology Dialysis Transplantation. TKV increases in both early- and delayed-treated patients were less than the increase estimated to have occurred without treatment (approximately 40%). The inability to demonstrate that the early treatment advantage on TKV achieved during TEMPO 3:4 was maintained at the end of TEMPO 4:4 may be accounted for by randomization imbalances that developed in the transition from TEMPO 3:4 to TEMPO 4:4 and by the fact that the tolvaptan effect on TKV is greatest during the first year of treatment, according to the investigators. Adjusting for baseline covariates improved the TKV treatment difference at month 24 in TEMPO 4:4 from 1.70% to 4.15% between the groups, a statistically significant difference.

Slopes of TKV growth during TEMPO 4:4 were higher in early- versus delayed-treatment groups (6.16% vs 4.96% per year).

Data showed that the effect of tolvaptan on slowing renal function decline in TEMPO 3:4 was maintained for an additional 2 years in TEMPO 4:4. The eGFR slopes in TEMPO 4:4 were similar in early and delayed-treated patients (−3.26 and −3.14 mL/min/1.73 m2 per year, respectively) compared with placebo.

The tolvaptan safety profile in TEMPO 4:4 was similar to that in TEMPO 3:4, Dr Torres' team reported.

PKD Research

From Yale News, Yale University, By Ziba Kashef

Study finds four genes linked to cystic diseases of the liver and kidney

Yale researchers are studying kidney and liver diseases to determine which genes are involved in the formation of cysts.

In order to diagnose and find treatments for a genetic disorder, scientists need to identify which gene mutations cause the disease. A common and often devastating genetic disease known as polycystic kidney disease (PKD) results in cysts in both the kidney and liver. Cysts are pockets of fluid in an organ that develop over time and crowd out the normal functioning parts. The more common form of PKD that affects adults and approximately half of their children, typically leads to kidney failure by the sixth decade of life. It is caused by mutations in the genes PKD1 or PKD2. The more rare juvenile form is caused by mutations inherited from both parents in a gene called PKHD1.

Researchers in the lab of Yale nephrologist Dr. Stefan Somlo have found that some patients have only liver cysts, not kidney cysts, and thus don’t get kidney failure. This disease, known as isolated polycystic liver disease (PCLD), is typically benign but can lead to symptoms in rare cases where the liver becomes very large. Nonetheless cysts form due to a dysregulation of the same disease process as those in the kidney, the details of which are an important area of investigation. To deepen understanding of why liver and kidney cysts form, a Yale-led research team examined the genes of patients with liver cysts.

Through sequencing of patient genomes and computer analyses, the researchers identified four additional genes associated with PLCD. This discovery demonstrated that many different genes are involved in the process of cyst formation. Interestingly, one of the identified genes was PKHD1, suggesting that a subset of carriers of PKHD1 mutations (parents of children with the juvenile form of PKD) can present with PCLD.

This finding supports a common mechanism of disease between both the adult and juvenile PKD and PCLD. Researchers, such as first author Whitney Besse, a clinical fellow in medicine, hope that through improving understanding of the genes involved in cyst formation, an effective treatment can be developed. It could be hypothesized now that blocking a single pathway could cure all of these diseases, said Besse. She and her colleagues plan to further study the underlying mechanisms of these diseases and how they might interact.

Read the fully study, published in the Journal of Clinical Investigation.

Living with PKD

From Central Maine.com, BY BETTY ADAMS

West Gardiner man with kidney disease challenges state decision to deny him disability payments

Terrence Marks, 55, of West Gardiner, talks about his kidney disease and retirement case during an interview on Thursday in his West Gardiner home. Staff photo by Joe Phelan

AUGUSTA — Terrence “Terry” Marks has kidneys that are twice the normal size and are doing less than a quarter of the work they should be doing to filter toxins from his system.

Symptoms of his polycystic kidney disease — now at stage 4 — forced the West Gardiner man from his job in November 2015 as part of a state highway maintenance crew that plowed roads in winter and did other jobs in the summer.

Marks, 55, has seen his disability retirement application rejected by the Maine Public Employees Retirement System, has been declared ineligible to collect a military retirement because his wife earns $29,000 as a clerk for the Town of West Gardiner, and is ineligible for Social Security disability benefits.

He went to the State House Friday morning to speak in favor L.D. 176, a bill that he hopes will change the laws regarding state disability retirement benefits.

However, the Legislature’s Appropriations and Financial Affairs Committee only briefly considered the bill before agreeing to carry it over to the next session. Marks was out of the hearing room when the public was invited to comment, and he missed the opportunity. In fact, no one spoke about the bill, which is a concept only and lacks specific language.

But he and his wife, Tina Marks, still plan to support a law change so others don’t run into similar problems.

“There’s no help in the state system,” Terry Marks said on Thursday as he considered what he wanted to tell the committee. “My money is sitting in the state retirement system. My money’s there. I’m getting nothing. My future retirement money’s sitting there.”

Marks was terminated in November 2015 because he was no longer physically able to perform his job after 19 years and 11 months working for the state.

For a year, the family was OK financially because he had purchased income protection insurance, but that support ended in November 2016. Now things are much tighter.

While he has medical insurance through his wife’s job, he said, “There’s lots of bills coming in that aren’t covered by insurance. I have an old junked-out pickup truck. There’s the phone, lights, heating. Once there’s no paycheck, we’re scrimping, downsizing, everything you can imagine we’re trying to streamline.”

They feel powerless.

“This isn’t my master plan,” Marks said. “We were going to retire and venture out and do the day trips. We were going to enjoy our retirement. Our plan was not to be sick. We were going to buy a camper and go camping on weekends and travel around the state of Maine. My retirement has been altered. My plan wasn’t to get sick and end up suffering in end-stage kidney failure.”

He got news of his latest denial from the Maine Public Employees Retirement System on Wednesday.

According to Michael Colleran, general counsel for MainePERS, Marks’ case now will be considered by the system’s board of trustees. If the board upholds the hearing officer’s denial, then Marks’ only appeal would be to a superior court judge.

Data from MainePERS indicates that 82 of the 121 disability applications handled in 2016 were denied initially. It also shows that of the 73 appeals completed that year, 23 were granted.

State Sen. Shenna Bellows, D-Manchester, who is not on the committee but who attempted to aid the Marks, said afterward, “It strains credibility to me that 62 percent of the applicants for disability can be denied.”

She said she worries about how the families can survive.

“I would like to see something done that will try to make the system work for the people it’s designed to serve,” she said.

Just prior to the committee’s consideration of L.D. 176, introduced by state Rep. Robert A. Foley, R-Wells, the MainePERS system and the MainePERS Disability Retirement Task Force made presentations to the committee that appeared to address some of the concerns that Marks and others face.

Sandy Matheson, executive director of MainePERS, noted that 1,300 of 38,500 retirement member are on disability; the others are on service retirement. Another 51,000 are active members, paying into the plan.

She noted that members of MainePERS “experience varying levels of difficulty and frustration when applying for disability retirement.”

Specifically, Matheson said, the statute limits the MainePERS benefit to permanent disability.

“We know there’s a misperception of what our program is that really causes a lot of hardship and heartache for people,” Matheson told the committee.

She said that the task force looked into the costs for long-term disability insurance, which would fill in when the short-term income protection ends.

“We’re hoping to make it an opt-out, so people are aware there could be a gap in income and don’t think of our plans as disability insurance,” she said.

State Rep. Brian Hubbell, D-Bar Harbor, who serves on the committee, said, “I’m convinced we need to do that. We have to have some system to tell employees what our disability retirement program is and isn’t.”

Matheson said later that MainePERS is trying to refine its internal process to educate members and employers that the retirement system is not for long-term disability.

“You retire because you’re permanently disabled,” she said.

She told the committee that problems arise when members essentially apply too soon, when they find work difficult but are not yet permanently disabled.

Matheson also indicated that Foley’s bill is a placeholder should the agency need changes in the law.

State Sen. Roger Katz, R-Augusta, also presented a bill to give state disability retirement benefits to someone who becomes disabled after leaving state service, who is ineligible for social security disability and who prevails in or settles a claim under the state’s Whistleblowers’ Protection Act.

The first person to testify in favor of the bill was Sharon Leahy-Lind of Portland, who meets all those requirements.

In 2013, Leahy-Lind, who was director of the CDC’s Division of Local Public Health, disclosed that she was ordered by her superiors to shred documents related to competitive grant awards in the Healthy Maine Partnerships program. The documents shed light on irregularities and possible illegal activity in the way certain grants were awarded.

She later filed a whistle-blower complaint in federal court alleging retaliation for refusing to shred the documents. The lawsuit was settled.

Leahy-Lind said bonafide whistleblowers should not be denied benefits. She told the committee she had been diagnosed with pancreatic cancer after leaving state service and that the bill could potentially benefit her and protect future whistle-blowers.

“I’m not here today to seek your sympathy,” she told them. “What I’m afraid of is to live with no income, continue to liquidate my assets and leave my daughters with debt.”

Friends and former coworkers of Leahy-Lind spoke in support of the bill as well.



Betty Adams — 621-5631

PKD Foundation Video Series, PKD: Obesity is an Issue, PKD: Its Runs in the Family, Dialysis on Cyprus

PKD Life

From PKD Foundation

Video series: Give hope

All month long, we have followed the inspiring PKD stories of the Phelps and the Wiesman families - but their journeys are far from over. Watch our video to hear more about how their connections with the PKD Foundation have helped them along the way and their hopes for the future.

From NorthGlen News, South Africa

Obesity a strong factor in developing kidney disease

OBESITY poses a huge threat in the development of kidney disease. Experts say that there is a strong link between the development of kidney disease and obesity.

“Our kidneys are one of those things we take for granted until we’re diagnosed with kidney problems only then do we start being more careful,” said Gopalan Gounden, a 62 year-old former police officer who says he had to retire due to health problems. Gounden suffers from Polycystic Kidney Disease, a hereditary illness. He urged people to take care of their body’s organs. “When you have be placed on dialysis, like me, the machine only removes certain toxins from your body, so you have to take various injections as well. Dialysis is not a replacement for all the work which your kidneys naturally do for you.”

Risk factors

Obesity increases the risk of developing factors associated with Chronic Kidney Disease (CKD), like diabetes and hypertension. These risk factors have a direct impact on the development of CKD and end stage renal disease. This is because in individuals affected by obesity, the kidneys have to work harder to filter more blood than normal to meet the metabolic demands of the increased body weight. The increase in function can damage the kidney and raise the risk of developing CKD in the long-term.
The kidneys are an essential organ to the human body. They remove toxins and excess water from the blood. Kidneys also help to control blood pressure, produce red blood cells and keep bones healthy.

Being proactive

“It’s important that people are careful and become more proactive with their health,” Gounden said. “In my case, I want people to know that taking their organs for granted has a serious impact on your lifestyle. I have to have dialysis three times a week and if I want to travel I need to make arrangements for a dialysis unit wherever I go. You also can’t travel to places where you can easily pick up an infection.”

The International Society of Nephrology and The International Federation of Kidney Foundations (the organisers of the annual awareness campaign) say that obesity, as well as CKD, is largely preventable. Education and awareness of the risks of obesity and a healthy lifestyle, including proper nutrition and exercise, can dramatically help in preventing obesity and kidney disease.

From Times-News, Burlington, By Bill Cresenzo

Mother of three, 9-year-old friend seek kidneys

Hope Foster needs a kidney.

But really she wants two: one for her young friend, Kenon, and another for herself.

Foster, 41, lives in Burlington with her husband, Danny, and her children, Kameron and twins Hayden and Sophia.

Three decades ago, her father, Duain Penland, who suffered from polycystic kidney disease, received a kidney from his wife, Nancy.

He’s done great for the past 30 years, despite other health problems.

“We call him the ‘Energizer Bunny,’” Foster said. “He ‘takes a lickin’ and keeps on tickin’.’”

Now, Foster, who inherited her father’s disease, is the one in need of a new kidney.

She recently began dialysis, three days a week for three hours and 45 minutes each time.

She spends that time volunteering for the Clover Garden Charter School parent/teacher group “to keep me busy and to not go crazy.”

FOSTER ALSO HAS forged a special bond with Kenon McCollum, a third-grader who attends Clover Garden with her son, Kameron.

The boys are good friends. They have sleepovers, and Foster is generous with pizza.

Kenon is a polite boy with a cute grin. He answers “good” to a lot of questions. He loves to play baseball and wants to be a pro baseball player when he grows up.

He helps his parents, Ashly and Brad, take care of his little brothers.

Kenon had a kidney transplant when he was just 22 months old.

But now, that kidney is failing.

So Kenon, like Foster, needs a kidney.

They have the same blood type, so they are looking for the same type of match.

“If there was an option, and if it came down to me and him, I would want him to have it first,” Foster said.

Both Foster and Kenon are on the national transplant list. The average wait time for a kidney is five to eight years.

People have been tested to see whether their kidneys were a match for Foster, but they weren’t. Even so, “they are angels,” Foster said.

The first one to test was her husband, Danny.

He wasn’t a match, but they discovered during the testing that he had kidney cancer.

He’s fine now.


APRIL IS NATIONAL Donate Life Month.

Foster and her father are encouraging people to become organ donors, whether living or deceased.

The living procedure is done laparoscopically, with doctors accessing the kidney through three little holes in the abdomen.

“It’s a gift,” Penland said.

The father and daughter say that many people are scared of the prospect of donating to someone.

“My view on organ donation is very familiar,” Foster said. “But it’s a touchy subject. If you really understand organ donation and how it works, and how many people can be affected, I think you would change your mind. No one will ever know the true meaning of organ donation until it hits your family. When it hits your family, it’s a whole different ballgame.”

For more information about becoming a living donor, got to the UNC kidney donor website athttps://tinyurl.com/mue2wlm, or contact Amy Woodard, UNC Hospitals’ living donor coordinator, at 984-974-7568.

From Cyprus Mail, by BEJAY BROWNE

Kidney charity to supply two more dialysis units

Graham Brown receiving treatment


A PAPHOS charity is again stepping in to donate two further lifesaving dialysis machines for Paphos renal unit, which the government is unable to fund, according to the charity head.

Graham Brown, the chairman of the Paphos Kidney Association, who has hereditary polycystic kidney disease and receives regular dialysis treatment at the unit to keep him alive, told the Sunday Mail that Paphos general hospital had requested their help.

Since 2000, they have donated 12 machines.

Each hemodiafiltration (HDF) unit comes with a 25,000 euro price tag. If a patient doesn’t receive dialysis when needed, they will die within five days.

“A few weeks ago the hospital asked us to donate two more dialysis machines as the government are not helping,” Brown said. “I told them we have enough money for one, and we are collecting for the second one. We are almost there, we have about ten thousand euros to go, and we hope to get that in around six weeks.”

He added that the charity aims to supply the unit with two new machines every year to replace old ones which have a lifespan of around 14 years.

Brown said that huge efforts are being made by the community, British expat residents in particular, to support the registered charity, and that they are hoping to do more to encourage Cypriots to join in.

“We are asking the mayor of Paphos, Phedonas Phedonos, if he will be our patron, to try and get more Cypriots involved.”

Following the removal of one of his kidneys at a Paphos hospital, Brown started dialysis treatment in November 2013. He is now one of many patients who need regular dialysis treatment to keep him alive.

He said that the renal unit at Paphos general hospital now has 16 machines which are working, some better than others.

“Five are new in the last few years, their lifespan is around 14 years but many others are getting worn out,” he said, concerned that the ageing machines are unable to cope with the growing demand for lifesaving treatment. Chronic kidney failure is permanent and irreversible and the only chance of survival is to wait for a transplant.

Nurses at the unit are having to work night shifts to keep up with the demand and a much-needed proposed extension, which has been backed by the hospital director, looks set to go ahead. The extension will create at least five more beds, making treatment easier for both patients and nurses.

“We have been pushing for an extension as there are now around 75 patients needing treatment and negotiations are coming to an end and it’s looking good.”

He said the extension is vital as the current one is cramped, and there is no room between the beds.

“You can’t even get a wheel chair down the middle of them,” he said.

Currently, 12 patients receive dialysis machines in the morning, 12 in the afternoon and three times a week, eight at night time

Brown has just completed his 500th dialysis treatment, each one takes five hours and he needs them three times a week to keep him alive. It costs around €50,000 to treat each patient a year.

Brown said he can’t fault the treatment itself, or the level of care and professionalism by staff at the hospital.

“The nurses are wonderful and the support of my wife Heather has been instrumental in keeping me going, she is my rock. Without this treatment, Heather would have been a widow four years ago.”

Although Brown’s condition is getting steadily worse, he remains a driving force behind the charity and was awarded the Heart of Gold award Cyprus for his efforts in 2015.

The association has done much to improve the unit, by raising money and purchasing a huge amount of equipment since its inception 15 years ago.

“It will cost around 170,000 euros to fully equip the extension and I hope that we can achieve that also,” he said.

Brown has just been presented with a cheque for 5,500 euros from Minthis Hills golf course, and a regular monthly ‘kidney quiz’ which is held at the UKCA organised by a British expat Peter Milligan, helps too, he said.



Further information is available at the charity’s Facebook page.

To organise an event for the Paphos Kidney Association: (00 357) 99244679 www.cypruskidney.com