PKD International

PKD International

From PKD International.org, The Global Alliance for Polycystic Kidney Disease

What is Polycystic Kidney Disease (PKD)?

Polycystic Kidney Disease (PKD) is a range of inherited conditions that cause renal (kidney) failure, injury to other organs and sometimes result in premature death in children and adults. PKD is ’primarily characterised by the development of multiple micro and macroscopic cysts – sacs filled with fluid – throughout both kidneys and often, the liver.

There are 2 major forms of Polycystic Kidney Disease:
Autosomal Dominant PKD or ADPKD
Autosomal Recessive PKD or ARPKD

Both types of PKD occur from abnormalities or mutations in single genes inside human cells. Genes contain DNA, the ‘building blocks’ of life which contain instructions for making the proteins that are necessary for human development. When there is a genetic mutation, the proteins don’t work properly or are sometimes missed. In PKD, the genetic mutations affect the kidneys primarily, but also affect the development of the liver and other organs.

The genes are packed into 23 pairs of 46 chromosomes. One of each pair is inherited from each parent, along with any mutations.

PKD disorders are called ‘Autosomal’ because the mutations occur in one or more of the 22 chromosomal sets that are ‘non-sex’. (The 23rd pair are the XY chromosomes that determine gender.) PKD occurs equally in men and women with no gender bias.

ADPKD

ADPKD is the world’s most common inherited kidney disease, in which fluid-filled cysts develop, multiply and grow in both kidneys. Other organs, such as the liver and brain, may be affected.

Between 1 in 400 and 1 in 1000 people worldwide – about 12.5 million – have ADPKD. Over half of those affected will have kidney failure by the time they are 60 years old. Many will experience regular pain, disabiity and anxiety throughout life

ADPKD is caused by mutations in the PKD1 and PKD2 genes. It has a dominant pattern of inheritance which means that you only need an abnormal gene from one parent to cause ADPKD, even though the matching gene from the other parent is normal. The abnormal gene dominates.

Typically, ADPKD is inherited from a parent, but approximately 5-8% of cases are de novo’ or spontaneous mutations at conception. If you have ADPKD, there is a 1 in 2 (50 percent) likelihood that any children you have will inherit the disease. Each child’s risk is independent of other children. Children who do not inherit the abnormal gene will not develop or pass on the disease.

Read more about ADPKD.

ARPKD

ARPKD is a rare and severe disease which can result in early kidney and liver failure. It occurs in about one in every 20,000 live births.

Sadly, about one baby in three with ARPKD dies from breathing problems during the first four weeks after birth and some will die during pregnancy.

However, 8 to 9 in ten babies (80-90 per cent) who survive the first four weeks of life are still alive at five years old. Encouragingly, a good number of children now survive into adulthood and are able to live full and productive lives.

ARPKD is caused by a mutation in the gene PKHD1. It has a recessive pattern of inheritance which means that you have to inherit two copies of an abnormal gene, one from each parent to get ARPKD. If you inherit only one mutated gene, you will be a ‘carrier’ but not develop ARPKD. However, when two carriers with the same abnormal ARPKD gene conceive a child, there is a 1 in 4 (25%) likelihood of passing the abnormal copy to the child. ARPKD will then occur.

From PKD International.org, The Global Alliance for Polycystic Kidney Disease

PKD International Members

PKD Scotland Conference

Join us in Edinburgh on Saturday 4 October for the first-ever Conference in Scotland dedicated to PKD.

Hosted by Professor Neil Turner

Bringing patients, families and carers together with consultants, GPs, researchers and other PKD experts.

The aim is to educate, support and give hope to those living with or caring for someone with PKD.

PKD Gift of Life

From Fox 2 News, St. Louis, MO, BY TOM O'NEAL

Sisters receive life-saving transplants

CRYSTAL CITY, MO (KTVI)– We have followed the Derque family of Crystal City through a remarkable medical journey. The latest development is a giant step toward a normal life for the family. Both daughters needing organ transplants have received them.

We first introduced you to the Derque family about 2 1/2 years ago. At that time, 7-year-old Kate Derque and her 12-year-old sister, Abbi, both needed double organ transplants. A genetic disease called Polycystic Kidney Disease was destroying their kidneys and liver. Kate was getting dialysis three times a week and had just gone on the waiting list for a transplant. Abbi had been on the transplant list for 2 years and was getting monthly checkups. Abbi had had a recent scare with bleeding in the liver. Middle child, John, was healthy. Their mother, Kim refused to feel sorry for herself or let her children feel sorry for themselves. She was determined that they not be defined by their disease. Kim told me if she could wave a magic wand and make everyone healthy she would. But that was not what they had been given and they would make the best of it.

We did a follow-up report last August concerning a big change in the family’s situation. In May of 2013, Kate now 9, underwent a 10 hour surgery at Cardinal Glennon Children’s Medical Center to receive a new kidney and new liver. Things went well and Kate has had a good recovery.

But Abbi was still waiting for a similar transplant. Kate was transplanted first because she was higher on the list. At the time, Abbi told me she was excited for Kate but that all the waiting for the call to come was hard. She couldn`t really participate in sports and had to stay within three hours of the hospital in case that call would come.

Kim said it was hard to find words to express her gratitude to the donor family that gave Kate a new lease on life. She does not know the identity of the donor. They would take it one day at a time to wait for a transplant that would also give Abbi a chance at a normal life.

That day was 10 months later in March of this year. The family received the call that organs were available for Abbi. She also underwent a successful 10-hour surgery to implant a new liver and kidney. [Read more]

Black Market Kidneys

From Comcast SportsNet Chicago, NBC 5 Chicago Investigates

Meet a Man Willing to Sell a Kidney, Another Who Needs One

Faced with financial problems, a Chicago-area man turned to the Internet and took the drastic measure that countless others have: offered to sell an organ.

"I was kind of joking about it one day at work and I thought why not?" said Michael Nelson of Aurora. "I could help someone out and they could help me out at the same time."

The 40-year-old said he received numerous hits on his Craigslist ad -- one kidney in exchange for $30,000 -- which ran for about a month. Before he knew he was corresponding with NBC Chicago, Nelson said he was struggling financially and that selling his kidney would alleviate his problems.

"I did some research and there's no difference between having one and two," Nelson later explained. "There tends to be no adverse side effects. ... Three weeks of lying around, that's not bad. Not a big deal."

But it is a big deal.

Knowingly acquiring, receiving or transferring any human organ for human transplantation in exchange for money or consideration is against the law and can be punishable with prison time, a fine of up to $50,000, or both. Chicago law enforcement agencies said they’ve never made any arrests in connection with illegal organ sales but said any allegation would be investigated.

Despite the potential penalties, NBC 5 INVESTIGATES found hundreds of people in Illinois and across the world who were willing to sell kidneys for thousands of dollars. We exchanged e-mails with individuals claiming to be organ brokers and doctors open to performing the illicit transplants.

And there is demand. Hundreds of thousands of people currently wait for organ transplants, fueling a black market of human organs.

"It's tough to hear about people who could buy a kidney when there's people like myself waiting patiently for years to receive one," said Daniel Perez, who was diagnosed with kidney failure about two years ago. The 35-year-old Logan Square resident has been on a waiting list for 18 months, and until there’s a compatible donor, his four-hour, three-times-a-week dialysis treatments are his only legal option for survival.

"I think that all of us that sit here, we know that hopefully we are getting an organ through the network and nobody thinks about the black market,” said Perez. “Everyone knows it exists, but no one really talks about it.”

Patients like Perez have to wait on average three to six years for an organ. It's that kind of desperation that has led some to extreme measures to circumvent the national organ donor list.

Dr. Yolanda Becker, the director of the Kidney and Pancreas Transplant program at the University of Chicago Medical Center, said she sees first-hand how the demand for organs has increased while supply has remained stagnant. Kidney failure has become nearly epidemic in the United States. Additionally, dialysis patients are surviving longer, meaning more are candidates for transplants.

"There's clearly a shortage of appropriate donor organs for a variety of reasons," said Becker.

The U of C program has about 650 patients on the list for an organ, and there are more than 122,000 people nationally on the wait list. In Illinois, statistics indicate about one patient dies each day while on the waiting list for an organ, according to Kevin Cmunt, the president and CEO of Gift of Hope, an Itasca-based non-profit that coordinates organ and tissue donation.

The disparity between supply and demand for organs has spurred talk within the medical community about the possibility of creating state-wide pilot programs that would permit the controlled sale of organs. Congress has so far been reluctant to change the 1984 law.

In the meantime, more than one human organ is sold illegally somewhere in the world every hour, according to a 2012 World Health Organization report. Most of those organs are kidneys. [Read more]

Dialysis News

News4 JAX, Jacksonville, Florida, Author: Jodi Mohrmann
New hope for dialysis patients

Nearly 400,000 Americans are on dialysis for kidney failure. The treatment uses a special machine to filter toxins from the blood and often requires a graft to connect an artery to a vein to speed blood flow. But in many patients, synthetic grafts lead to infection and frequent hospitalizations. Now a first of its kind bio-engineered blood vessel is changing that.

William Alexander has suffered with kidney failure for 15 years. Dialysis keeps him alive.

“[It’s not] like you can’t do it,” Alexander said. “You’ve got to have dialysis to live.”

However, his arm tells the story of failed blood vessel grafts used to help clean his blood.

“It’s disfiguring,” said Jeffrey Lawson, MD, PhD, Professor of Vascular Surgery and Pathology at Duke University Medical Center in Durham, North Carolina.

It’s a reality Lawson says most patients face.

“I tell many of my patients they can expect to have a procedure related to dialysis at least once a year,” Lawson explained.

Now, a new bio-engineered blood vessel using donated human cells could change that.

“We’ll be able to reduce the number of interventions they have to have,” Lawson said. [Read more]

From jacarandafm 94.2

World's first dialysis machine for infants

The world's first miniaturized kidney dialysis machine has saved the lives of eight babies in nine months, the Italian scientists who raised the money to build it said on Friday.

Until now, babies with kidney failure were treated with machines built for adults, with smaller filters and other imprecise adaptations that tend to withdraw too much or too little of the waste fluid building up in the body.

"Incredible but true," said Claudio Ronco from the San Bortolo Hospital's renal research institute in Vicenza. "It's like using a tool for a car to fix a watch."

Yet companies have been loath to invest in baby-targeted machines as they are not profitable enough, he added.

"The number of neonates (infants) around the world that suffer from this disorder is very small and therefore there is no point for a company to invest in technology."

So Ronco and colleagues launched a fundraising programme, hosting sports games and concerts and collecting some 300,000 euros ($410,000) to build a prototype.

This attracted help from two Italian manufacturers, and so the child-friendly machine dubbed CARPEDIEM (Cardio-Renal Paediatric Dialysis Emergency Machine) was born.

The first beneficiary, a girl with multiple organ failure weighing just 2.9 kilogrammes (6.4 pounds), was treated in August last year.

"The baby was almost dead," Ronco told AFP. "This baby could not be treated with any other treatment. When the baby was discharged from hospital we really had the impression that we had done something very good." [Read more]

From Gnomes National News Service, Switzerland, Press Release

Major Step Towards Portable Artificial Kidney

Debiotech, AWAK and Neokidney Development sign partnership to bring compact home haemodialysis machine to first patients by 2017

Today three international innovators join forces to develop and deliver to patients the world’s first portable artificial kidney. Debiotech of Switzerland, AWAK of Singapore and Neokidney Development, an initiative of the Dutch Kidney Foundation, have signed a joint venture agreement to complete a functional model in 2015. Clinical trials are planned for 2017. The portable artificial kidney will enable the frequent and longer home haemodialysis that significantly improves and extends patients’ lives.

With over 3 million people worldwide suffering from End-Stage Renal Disease (ESRD) and nowhere near enough organ donors, almost 2.5 million patients have no alternative but haemodialysis (an intrusive and imperfect treatment that requires patients to visit a dialysis center 3-4 times a week for 3-4 hour sessions that approximate just 10-15% of the toxin removal by a healthy kidney). The impact of such an innovative product on patients’ health, autonomy, quality of life and life expectancy could be immense.

The joint venture will deliver a compact dialysis machine that patients can use themselves, directly at home. Scientific research has already established that frequent and longer dialysis (e.g. at night) limits the treatment’s side effects, including dialysis hangover and cardiovascular stress, and increases both autonomy and life expectancy. Moreover, home (night-time) haemodialysis is considerably cheaper than in-center treatment. The portable artificial kidney developed by the partnership will finally bring these benefits within the reach of patients and society. [Read more]

PKD Cancer Risk

From Philly.com, HealthDay News

Cancer risk for kidney transplant recipients may vary depending on the type of kidney disease they have, a new study finds.

Patients with polycystic kidney disease (PKD), a genetic disorder, may be less likely to develop cancer than those with other types of kidney disease, but they still have a higher cancer risk than people in the general population, the researchers found.

In polycystic kidney disease, cysts form in the kidneys, causing the kidneys to become enlarged. The condition affects nearly one in 1,000 people in the United States.

The research team analyzed data from more than 10,000 Americans with polycystic kidney disease who received a kidney transplant and more than 107,000 transplant recipients with other kidney diseases.

After adjusting for a number of factors, the researchers concluded that patients with polycystic kidney disease were 16 percent less likely to develop cancer than those with other kidney diseases. Compared to people in the general population, cancer risk was 48 percent higher in polycystic kidney disease patients and 86 percent higher among those with other kidney diseases.

The study was published online May 22 in the Journal of the American Society of Nephrology.

It's not clear why polycystic kidney disease patients have a lower cancer risk than other kidney disease patients, "but some factor or factors in PKD patients -- either inherent in the disease process itself or related to the care PKD patients receive -- is associated with lower risks of cancers," Dr. James Wetmore, of the University of Kansas Medical Center, said in a journal news release.

"Further study is required to determine how PKD might influence the development of cancer," he added.

It may be that polycystic kidney disease may trigger certain defenses that protect against cancer. Or it's possible that because of their disorder, people with polycystic kidney disease adopt healthy habits that help protect them against cancer, Wetmore suggested.  [Read more]

PKD Fundraising

From Herald-Argus, La Porte, Indiana

More than $1,500 raised at annual Cruise

More than 300 people and 110 cars took part in the annual Cruis'n For a Cure on Sunday, which raised $1,765, according to PKD Foundation and cruise staff.

Polycystic Kidney Disease affects 600,000 Americans and 12.5 million children and adults worldwide. There is no treatment or cure, but there is hope, said Cruise Chairperson Laura Moyer.

This event is very personal to Moyer, as she received a kidney transplant in December 2011 from the genetic disease.

This year's Cruis'n For a Cure sponsors included La Porte County Fair, Miller's Port-A-Pots, Root Funeral Home, La Porte Chrysler, and MC Auto, Scotty's Dynamic Design, Starbucks, Marshall's I Street Custom Meats, Kreamo Bakery, Moose Lodge No. 980 of Michigan City, The News-Dispatch, The La Porte County Herald-Argus, Harbor County News, Family Express and Blue Chip Casino, Hotel & Spa.

Moyer on Monday expressed thanks to the cruise committee, including Jeff Moyer, Mike and Debbie Paholski, Jim and Mary Tanner, Kristin Smith, Evelyn Bechinski, Cathy Dye and La Porte County Sheriff Mike Mollenhauer for leading the cruise.

Moyer said this was a great start of this year's fundraiser for PKD. She said the next PKD event will be the two-mile walk for PKD on Sept. 20 at Creek Ridge County Park.

Best Mothers Day Gift

Gift of Life

From Tulsa Word, Tulsa OK, By NOUR HABIB

Oklahoma mom gets unique gift from daughter-in-law: a kidney

Leslie Acton and Tommie Acton are spending Mother's Day in the hospital.

Each is recovering from a kidney procedure.

Leslie Acton donated hers. Tommie Acton received it.

The two became family about 18 years ago, when Leslie married Tommie's son. Neither guessed that one day Leslie Acton's kidney would be a perfect match for her mother-in-law.

"To find someone that really is not blood-related at all is very unusual," Tommie Acton said. "God had a plan."

Leslie Acton agrees.

"Yup, that's what we say," she said. "This is a God thing, for sure."

The search for a donor began in October, after Tommie Acton was cleared for a transplant surgery. Tommie Acton, 62, has polycystic kidney disease — or PKD. The disease is a genetic disorder in which numerous cysts grow on the kidneys, eventually leading to kidney failure.

"My kidney is the size of a football," she said.

Tommie Acton was diagnosed with the disease years ago, in her late 20s or early 30s, she said. About eight years ago, she began dialysis and put her name on the transplant list. But a few months later, she was diagnosed with breast cancer and removed from the transplant list.

"They don't want to give you a kidney if cancer is gonna get you," she said.

After being cancer-free for five years — and after a few other delays, caused by a rare infection and two stent procedures because PKD can lead to clogged arteries — Tommie Acton was cleared for a kidney transplant in October. [Read more]

From The University of Connecticut, Phys.org 

Students design artificial kidney with 3-D printing

Three-dimensional printing has garnered coverage in the popular press for its application in the custom manufacturing of tools and mechanical parts. But six School of Engineering seniors have recently taken the application of the technology into the medical field, using 3-D printing to create body parts.

Under the direction of Anson Ma, assistant professor in the Department of Chemical and Biomolecular Engineering and the Institute of Materials Science, two three-person teams of chemical engineering students were tasked with creating an artificial kidney for their Senior Design Project using 3-D printing technology. 3-D printing is an additive manufacturing method capable of creating complex parts that are otherwise impossible or extremely difficult to produce.

The students participating were: Derek Chhiv, Meaghan Sullivan, Danny Ung, Benjamin Coscia, Guleid Awale, and Ali Rogers. They are one of the first classes of students to partner with a commercial 3-D printing company, ACT Group, to create a prototype.

The challenge the teams set out to tackle is rooted in a very real problem.

The United States Renal Data System reports that, as recently as 2009, End-Stage Renal Disease (ESRD) resulted in over 90,000 deaths. Options for treatment of renal disease are essentially limited to either an organ transplant or dialysis. However, there is a limited supply of transplantable kidneys, with demand far outstripping the supply; and dialysis is expensive and is only a temporary solution. [Read more]

From Daily Record, Washington State, by MARY SWIFT

Numbers tell the story of how kidney donors save lives

Claudia Osmonovich hit some bad luck when she developed polycystic kidney disease (PKD), a heredity disorder that can lead to kidney failure.

But last month at Seattle’s Virginia Mason Medical Center, Osmonovich saw the other side of lucky when she received a kidney transplant from a living donor.

The fourth member of her family to get a kidney transplant, Osmonovich also is one of a growing number of patients getting kidneys from living rather than deceased donors.

Science has come along way since 1950 when Ruth Tucker, a 44-year-old woman with PKD became the first kidney transplant recipient in the U.S. It was an era before the development of effective anti-rejection drugs and the transplanted kidney lasted less than a year before it was rejected.

But that was long enough to have her own kidney start working better. She lived for five more years.

Four years after Tucker’s kidney transplant, doctors in Boston performed the first successful living donor kidney transplant in the U.S. between identical twins Ronald and Richard Herrick. Because they were identical twins, the donated kidney was not rejected.

At Virginia Mason Medical Center, the first kidney transplant was 42 years ago. Since then, the hospital has done roughly 2,900 kidney transplants and currently averages about 115 annually, according to Ann Rutledge, manager of the organ transplant program at Virginia Mason. Strides in the development of immunosuppressant drugs have improved outcomes.


Awaiting transplants

Roughly 122,000 people in the United States are currently awaiting organ transplants and of that number, roughly 100,000 are waiting for kidneys, Rutledge says. In Washington state, roughly 2,000 are on transplant waiting lists. Of that number, about 1,700 are waiting for a kidney.

Those figures demonstrate what Rutledge calls “the acute need we have for donor kidneys.”

The beauty of the kidney is that people are born with two of them but need only one to survive.

For healthy people, that leaves a kidney to help someone else — like Ellensburg’s Janet Campbell did when she offered a kidney for Osmonovich.

While kidneys transplanted from deceased donors save lives, kidneys from living donors have advantages, Rutledge says. Among them is a reduction in the time a patient who needs a transplant spends waiting to get one. The quality of the donor organ improves too because there’s a shorter period between the time an organ is procured and when it is transplanted.

“Once you take a kidney out of the body the kidney actually starts to decline. When you’re doing a transplant with a living donor they’re right across the hall,” Rutledge says.

Whether a transplant kidney is from a living donor or a deceased donor, transplantation adds years to life expectancy when compared to dialysis.

“We look at remaining lifetime years,” Rutledge says. For example, a person in the 60 to 64 year age range who goes on dialysis would be expected to have about 4.6 remaining lifetime years. A transplant would raise the expected remaining lifetime years to 12.6 for that same patient, she says.


Getting a match

For those facing the need for a kidney and those intent on trying to help them, the most significant change in kidney transplantation at Virginia Mason is Kidney Paired Donation, Rutledge says. The program, done through a national registry that matches donors and recipients, increases the availability of living donor kidneys by matching an incompatible donor/recipient pair to another incompatible pair. For example: Person A might want to donate to Person B but is incompatible as a donor. Matched through the registry with another donor/recipient pair, Person A may donate to Person D while Person B gets a kidney from Person C. In some cases, multiple pairs may be involved in the kidney swap as experts match living kidney donors with compatible recipients.

Besides Virginia Mason, the University of Washington, Swedish and Sacred Heart also do kidney transplants in the Seattle area. Pediatric transplants are done at Children’s Hospital.

For information on becoming a living donor, call Virginia Mason’s Living Donor line, 206-341-1201. For information on kidney and other organ transplantation, go to the United Network for Organ Sharing at UNOS.org.

From WBOC Channel 16, Washington, DC, by Michael Chesney

Organ Donors Come Together for Rare and Special Meeting

Last spring WBOC shared with you the story of a Milford woman in desperate need of a kidney transplant.
Nadine Holleger had polycystic kidney disease. It's a life-threatening, genetic disorder.

Holleger had a willing donor, Leia Dypsky. But Dypsky was not a match.

Holleger's blood type was making finding a match very hard. Still Holleger did end up getting a kidney this past June. It was process called "paired exchanged" that saved her life.

On April 27 Holleger was in Washington, D.C., looking for a needle in a haystack. There were 15,000 runners participating in the Nike Women's Half-Marathon, and she was looking for just one.

"It's still a bit hard for us to recognize her, because we only met her once," she said.

Holleger met Jennifer Raczka that one time only the day before the race. But since June, despite not having met, they've shared a connection - specifically that Holleger now has Raczka's kidney in her. That happened through paired exchange.

"They will put your information in the computer," Holleger explained. "The computer finds the best match for you from a group of people who have already been entered."

In other words, a donor-recipient pair ends up swapping with total strangers. And in this case, the computer found three pairings that together could exchange successfully.

Holleger had her willing, but non-matching, donor - Dypsky. Raczka was donating for her mother, Gail Kneebone. And the computer also pulled in donor don Hyneck and his sister-in-law, the recipient, "Beth."

Dypsky's kidney went to "Beth" in san francisco. Hyneck's went to kneebone in san diego. And Raczka's came to Holleger in Delaware.

"It's a round robin of organs going around the country," said Hyneck.

"We saved three lives," Dypsky said.

At the time of the donations, donors didn't know whose organs they were getting, and recipients didn't know where their organs were going.

"I was focused on my mom," Raczka said. "In the back of my mind, I thought, 'I hope mine is going somewhere good. I wanted it to have a good home.'

But there was no guarantee Raczka would ever learn where that home was. Paired exchanges donors and recipients don't necessarily learn each other's identities.

"We are given the opportunity after the donation takes place to send a confidential letter to the donor," said Holleger. "If they choose to respond, they can."

And Raczka did. [Read more]

PKD Issues

From PR Urgent, a Press Release

Renal Expert Examines Hernias in Dialysis and Polycystic Kidney Disease Patients

Putting fluid into the peritoneal cavity for peritoneal dialysis leads to an increase in intra-abdominal pressure. This can lead to complications such as hernias and leaks of dialysis fluid.

When undergoing peritoneal dialysis (PD), patients whose cause of kidney failure is polycystic kidney disease (PKD) may be at risk for complications due to enlarged kidneys or liver reducing the volume capacity of the peritoneal cavity. One of these complications is hernias.

"Hernias can be painful," said Shiona Mackenzie-Morrison, Hamilton Chapter Coordinator for the PKD Foundation of Canada. "It is a good thing that abdominal hernias can be repaired, but many patients are concerned about undergoing continuous peritoneal dialysis if they have experienced a hernia. In her talk at St. Joseph's Healthcare Hamilton on May 25, Dr. Bargman will explain why hernias should not prevent people from doing PD."

Joanne Bargman MD, FRCPC, is an award winning staff Nephrologist at the University Health Network (UHN) and Professor of Medicine at the University of Toronto. Dr. Bargman says that, despite the increased risk of hernias in polycystic kidney disease patients, they can do very well on PD.

"This home dialysis method allows the patient greater control over their therapy, and obviates the need to travel to an in-centre dialysis unit several times a week," Dr. Bargman said. "Except in the patients with massively enlarged kidneys, PD is a viable method of renal replacement therapy with a good outcome in PKD patients." [Read more]

PKD, Real Stories

From Worchester News, UK

Worcester dad runs marathon in thanks for daughter's care

AN ATHLETIC dad from Worcestershire has strapped on his running shoes to raise cash for the clinic which cared for both his young daughters in their first few weeks of life.

Graham Edwards ran the Worcester marathon on Sunday, May 4 in the latest in a very long line of fundraising efforts for the children’s clinic at Worcestershire Royal Hospital.

Mr Edwards and his wife Em are frequent visitors to the clinic as both their young daughters, nine-month-old Mabel and two-year-old Amelia, suffer from Pyruvate Kinase Deficiency (PKD).

The girls are among only about 12 people in the Midlands who suffer from the blood disorder, which means they need constant monitoring and will need blood transfusions for the rest of their lives.

Last year the family from Fernhill Heath near Worcester raised £1,600 to thank the clinic for the care Amelia received when she was just five weeks old.

Mr Edwards said: “Our eldest little girl had a rough start in life, spending a stressful four days in intensive care just 12 hours after coming into this world.

“Unsure what caused her severe jaundice and low blood count she underwent a series of blood tests.

“Now our latest addition to the family, Mabel Lily, has PKD and she too is a little fighter.


“At all times the staff in the children’s clinic have been so reassuring and helpful to us.

“They have really helped us through a lot of traumatic times.”

As well as taking on the marathon earlier this month, Mr Edwards and some of his colleagues from Adecco Recruitment in St Nicholas Street, Worcester, are planning on cycling the five mountain stages of the Tour de France in the Pyrenees as well as an Ironman even later in the year.

Senior staff nurse at the children’s clinic Charlotte Hughes said she and her colleagues were extremely grateful to the Edwards family for all their fundraising work. [Read more]

From Simcoe County, Ontario, Canada, by Trina Berlo

Health crisis could cause Wasaga Beach family to lose home

After having lost almost everything in the last two years, the Giunta family is desperate to save their Wasaga Beach home.

Paul Giunta, an independent transport truck driver, was the sole breadwinner for the family until May 2012 when he was diagnosed with polycystic kidney disease.

His wife Brigitte said that is when their world fell apart.

Before his diagnosis Paul found that he was getting tired during the long hauls that used to be no problem at all. He would have to pull over and rest along the way. He was also gagging, which turned out to be a symptom of the disease.

He saw a doctor and was diagnosed with Stage 5 (most advanced) kidney disease and he was sent for dialysis treatments right away, which he continues to undergo three times per week for four hours each session.

Paul experiences side effects from the treatment and medication including insomnia, mood swings and depression. He feels tired and unwell, has to be on a special diet and can’t lift anything heavy. He said he would have to retrain to find another job but his health is too poor.

Brigitte, who has been a stay-at-home-mom, is now Paul’s caregiver. She said they would do anything to get off of disability but they have no options.

With no income and not being able to return to work, Paul, 57, was forced to sell his transport truck, but at a loss.

The sale didn’t cover the business debt, let alone their personal debt that was adding up.

Paul did qualify for disability but with creditors calling and no way to make payments, the Giuntas are afraid they will lose their home of 22 years, where they have raised their four children, one of whom still lives at home. [Read more]

PKD, Stories of Hope

Stories of Hope

From PKD Foundation of Canada, March 2014 PKD eNews

Story of Hope: Laura Malcolm

Two years ago, I found out I was pregnant with my first child. At our 20-week appointment, we learned that our child had extremely enlarged kidneys. At the time, the doctors didn't know exactly what the cause of these abnormal kidneys, so both my husband and I were sent for several tests, as was our child in utero. After the testing, it was determined that my kidneys and those of my husband were completely normal. We had no history of kidney disease in either of our families, so the doctors were initially puzzled. Finally, at about the 7 month mark, the results came back and our child was diagnosed with autosomal dominant polycystic kidney disease or ADPKD. We had never heard of PKD, so thus began our search for answers. Though some of the medical team told us to “expect the worst”, even going as far as encouraging us to terminate the pregnancy, my husband Nick and I never gave up hope!  [Read more]

PKD Fundraising 

From Pocono Record, Pocono Manor, PA, By Jenna Ebersole

Pocono Manor kidney disease sufferer campaigns for cure

A Pocono Manor woman is turning a kidney disease diagnosis into an opportunity to raise money for a cure and connect with others also facing a risk of kidney failure.

Michele Vecchio has started a club to raise money to cure the genetic polycystic kidney disease.

The club will hold a Hippies for Hope fundraiser, with an option for attendees to dress the part, from 4 to 7 p.m. Sunday at Peppe's Bistro at 100 Eagle Valley Mall in East Stroudsburg.

Vecchio said she had never heard of PKD when she went to the doctor for unrelated chest pain eight years ago.

After a negative cardio work-up, a CAT scan revealed something else — innumerable cysts throughout her kidney and liver.

With PKD, the cysts multiply on the kidneys and cause them to grow in size, sometimes leading to kidney failure or death.

Though she was fortunate to find out in the early stages, Vecchio said her children have a 50 percent chance of having the disease as well.

She manages the disease, but doctors have told her there is a risk she will be on dialysis by age 60, awaiting a transplant.

"I'm in stage 1. I'm more fortunate than most, and this is why I'm able to do this and founded this chapter," she said.

Outwardly, Vecchio said her disease is not visible. But it creates fatigue and constant urinary tract infections in sufferers.

Others who want to help or have the disease as well have joined with her on a fundraising committee, and businesses have come together to help with Sunday's event.

FACES, the Faith, Accountability, Community, Education and Services organization, is the main sponsor and seeks an end to child abuse.

Local artist Jim Smeltzhas donated art, Coach has donated bags, Hideaway Hills Golf Club has donated a golf package, and other organizations have also donated items and services for auction Sunday.

Tickets to the event cost $35 and are available at www.NEPAPKD.myevent.com.

The cost includes three tickets to the Chinese auction, a food buffet and one free house wine, beer or soda.

From Camden Haven Courier, Australia, by Jan Dennis

Michelle's big haircut for two charities

KENDALL woman Michelle Dalton said she was excited as she parted company with her lovely long locks last week. She organised a very public haircut with Lakewood hairdresser, Karen Green, as part of a fundraising drive for Kidney Health Australia.

"I decided I'd ask people to make a donation to help fight kidney disease if I promised to cut off my very long hair," Michelle said. "I've always had fast growing hair, so I was a natural for this kind thing."

The Dalton family used social media and their network of friends to raise awareness about the fundraising campaign. Before she took her seat in the hairdresser's chair Michelle had well exceeded her $1,000 target.

"The total this morning was $1,947 and we have collected lots more today," Michelle said. "We've had lots of support from local Rock 'n Roll clubs and from hot rod clubs in Port Macquarie and Newcastle."

As a secondary benefit, Michelle now plans to send away her hair to be made into wigs.

"The people at Pantene Beautiful Lengths create free, real-hair wigs for women with cancer, so hopefully my contribution will be useful," she said.

As someone facing surgery or a possible kidney transplant, Michelle is acutely aware of the need for research into kidney disease. Michelle has polycystic kidney disease (PKD), which is a genetic condition characterised by the growth of cysts on the kidneys. There is currently no cure, but medical treatment can manage symptoms and reduce the risk of complications. Michelle says she feels reasonably well at the moment.

"I drink plenty of water and have had to change my diet completely," she explained. [Read more]

From SouthEnd Standard, United Kingdom, By Philip Jones

Leigh couple walk for baby daughter Tilly who died from rare kidney disease

A COUPLE will embark on a ten-mile charity walk this weekend in honour of their baby daughter who died last year.

Suzanne and Peter Newman, from Leigh, were told 33 weeks into Suzanne’s pregnancy their baby would live for less than an hour after birth, due to an extremely rare kidney disease.

The couple decided not to continue with the pregnancy and in October last year Suzanne was induced at 36 weeks.

After the birth the couple stayed the night with their daughter before she was blessed the following morning.

Suzanne and Peter were given bereavement support by Havens Hospices and on Sunday will take part in the Havens to Havens fundraising walk.

Suzanne, 32, said: “We’d read books on grief and bereavement in the days after Tilly was born and although we obviously weren’t OK, we were a new kind of OK.

“My sister was expecting a baby around the same time as Tilly, and I actually had my first session on the day she gave birth so it came at a really good time for me. It worked well.

“As much as Peter and I talk, and we’re very open, it was nice to have someone completely independent.”

The couple have since undergone genetic testing for autosomal recessive polycystic kidney disease and found they do not have the dominant gene and are just carriers.


Peter said: “It means that for our next pregnancy the doctors can look for it at ten to 12 weeks and determine whether the baby has it or doesn’t.

“There are lots of smaller charities supporting families like ours. The work they do seems to have a much bigger impact because it’s so personal, and it’s hit a chordwith us.”

Those wishing to take part in the walk can register on Sunday from 9.30am at Little Havens Hospice, Thundersley.

People joining in the Havens to Havens fundraising event can take part in a five or ten-mile walk through Thundersley’s woodlands, Hadleigh and Leigh.

Organisers will share lots of local history along the route, and there will be plenty of family fun, with activities for children and adults and cream teas at the midway point.

For more information on the walk, visit havenshospices.org.uk/havenstohavenswalk or call 01702 221669.

Dialysis Trends

From MedPage Today, by Kristina Fiore

Q&A: Talking Dialysis Trends With Friedrich Port, MD

If anyone has a handle on renal and dialysis outcomes in the U.S. and around the world, it's Friedrich Port, MD, a distinguished senior investigator, past president, and co-founder of Arbor Research in Ann Arbor, Mich., which runs the Dialysis Outcomes and Practice Patterns Study (DOPPS).

DOPPS is known for its hefty volume of research in nephrology outcomes -- it's generated more than 170 studies -- and has given researchers a comparative perspective with its collection of both U.S. and international data.

Port was also the deputy director of the U.S. Renal Data System (USRDS) from 1988 to 1999, and is an emeritus professor of nephrology and epidemiology at the University of Michigan.

At this year's National Kidney Foundation meeting, Port was presented with the David M. Hume Memorial Award, given to a distinguished scientist-clinician in kidney and urologic diseases. He spoke with MedPage Today about changes in dialysis practice over time, upcoming trends in dialysis management, and having DOPPS and USRDS back under one roof. Here's the edited transcript of that conversation.

What key projects are you involved with now at Arbor Research?

I've been involved in various projects, including the transplant registry and some Centers for Medicare and Medicaid Services (CMS) demonstration projects. My activity now focuses on DOPPS projects, and there are multiple. As of this year, we've now expanded to peritoneal dialysis with PDOPPS, and now we have the chronic kidney disease (CKD) study, or CKDopps, to learn about the progression of CKD and the transition to dialysis.

What has been the most valuable research to come out of DOPPS?

The main goal is to correlate practice with outcomes, so we have groups of patients in dialysis units who are undergoing certain practices, and we see big differences in treatment from dialysis unit to dialysis unit. We use a random selection of dialysis units in order to have a mix of practices.

In terms of outcomes, we look at the management of anemia, phosphorus, the prescribing of dialysis, what kind of dialysis, how many hours should we be dializing. We are clearly finding that longer treatment sessions are associated with better outcomes, including lower mortality and fewer hospitalizations. We've also found that quality of life is very important for outcomes, and that depression is common and associated with higher mortality. We've also seen that for patients who have a slower recovery after dialysis, who feel drained and washed out, their quality of life is poorer and their mortality is higher.

Vascular access is also a key issue. We just reported here at this meeting that the U.S. is actually behind other countries regarding vascular access. [Read more]

PKD Research

From Business Wire. Press Release

Research and Markets: Global Polycystic Kidney Disease Therapeutic Pipeline Review 2014

DUBLIN--(BUSINESS WIRE)--Research and Markets (http://www.researchandmarkets.com/research/2vjckl/polycystic_kidney) has announced the addition of the "Global Polycystic Kidney Disease Therapeutic Pipeline Review 2014" report to their offering.

This report provides comprehensive information on the therapeutic development for Polycystic Kidney Disease, complete with comparative analysis at various stages, therapeutics assessment by drug target, mechanism of action (MoA), route of administration (RoA) and molecule type, along with latest updates, and featured news and press releases. It also reviews key players involved in the therapeutic development for Polycystic Kidney Disease and special features on late-stage and discontinued projects.

The report enhances decision making capabilities and help to create effective counter strategies to gain competitive advantage. It strengthens R&D pipelines by identifying new targets and MOAs to produce first-in-class and best-in-class products.

Companies Involved in Therapeutics Development

Drug Profiles

PKD, Sharing the Story

PKD Kidney Donations

From The Poly Post, CalPoly Student Newspaper, Ponoma, CA, by Adrian Danganan, Staff Writer

Family fights against all odds

Diana Minor, director of financial aid at Cal Poly Pomona, is currently on a quest. In fact, she always has been. However, she always kept her journey a secret.

“For so long, I would just not share the story,” said Minor. “It was personal, and it was private. My husband and I felt that whenever you tell somebody your story, the first thing that’s said is, ‘oh, I’m so sorry for you.’ We didn’t want that. We didn’t want people to feel sorry for us.”

It was only last year that the mother of two decided that it was time to officially break her silence.

“People kept saying, ‘if you don’t share your story, how will people know? How will people know that your husband needs a kidney?’”

Her quest is no longer a secret: Diana is looking for a living donor who is willing to give her husband, Darryle, a kidney.

The Minor family has been searching ever since Darryle was diagnosed with polycystic kidney disease about 14 years ago. According to the National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC), polycystic kidney disease occurs when cysts filled with fluids begin to form on the kidneys. The cysts cause the kidneys to enlarge, which reduces their function and ultimately leads to kidney failure.

PKD affects 600,000 people in the United States and is the fourth leading cause of kidney failure. There is currently no cure.

When Darryle was first diagnosed in 1997, Diana and he were unfamiliar with the disease.

“Initially, we didn’t know what it was,” said Diana. “His lifestyle didn’t change.”

And sure enough, their lifestyle remained as it was. The Minors started a family and continued to live their lives without the disease affecting them. That is, until it became noticeably prominent.

“As he progressed and as his condition got worse, we really started learning more about PKD,” said Diana.

Both Darryle and Diana began attending support sessions at Loma Linda University Medical Center and listened to others that have dealt with the disease. Over the last three years, both have managed to educate themselves about PKD.

On Dec. 11, 2011, it was discovered that Darryle’s kidney function was reduced to less than 15 percent. This forced Darryle to be placed on dialysis, which affected the Minor family drastically.

“Our lifestyle changed,” said Diana. “Prior to these kidney issues, he was active with the kids. It got to the point where he just couldn’t physically do it.”

According to Diana, dialysis for Darryle occurs three times a week—Monday, Wednesday and Friday—for four hours a day. On the days he is not on dialysis, he usually is recovering from the day before.

“And after the weekend, he’s back to the same thing,” said Diana.

This forced Darryle’s employer to let him go on Christmas Day 2012. [Read more]

From ABC7News, San Francisco, CA

MAN DONATES KIDNEY TO MOM FOR MOTHER'S DAY

A woman in Phoenix is alive thanks to a priceless Mother's Day gift from her son.

Ingeborg McIntosh became sick with polycystic kidney disease and needed a transplant.

Fortunately, the woman who's had more than 120 foster kids, didn't need to go far to find a donor.

Her 27-year-old son Jordan, whom she adopted at birth, wasted no time stepping up.

"I kept telling him up until almost the time of the surgery, you can back out, and he said, 'no mom, I want to do this for you,'" said McIntosh. "He goes, 'you took me in and now I want to do this for you.' Can't ask for a better son."

The surgery went off without a hitch last month.

Jordan says after his mom fought so hard to keep him around, it was an easy decision to make and he's happy he could return the favor.

From The Courier of Montgomery County, Conroe, TX, by Kimberly Sutton

TWHS students rally to raise funds for girl’s kidney transplant

Most little girls don’t put a kidney on their birthday wish list, but Halle Ludwig, of The Woodlands, hopes to receive a kidney transplant next month at the Texas Children’s Medical Center right in time for her 12th birthday.

Halle, who attends Mitchell Intermediate, goes to TCMC three times a week for kidney dialysis, and is away from home from 12:30-8 p.m.

“She started about two months ago and is on the machine for four hours each time,” said her mother Christine Clinkenbeard.

Halle was born with Autosomal recessive polycystic kidney disease.

Thousands of dollars are needed to assist Clinkenbeard with gas expenses to and from the hospital, medications, medical care and the transplant itself.

Halle’s brother, Layne Ludwig, is a sophomore at The Woodlands High School and his friends have come to know about Halle.

TWHS Student Body President Chase Giles met Halle’s mother and offered to help.

Giles and school officials presented Halle and her mother a check for almost $13,000 Thursday afternoon at the high school.

“I have no words,” Clinkenbeard said. “I can’t even believe it.”

After raising $500 with T-shirt sales in January, Giles said he wanted to “upscale it.”

“We really wanted to find a way for the students to be involved, help and give back on behalf of The Woodlands High School,” Giles said.

He and about 65 other school leaders in the Principal’s Leadership Council brainstormed a month-long fundraising project.

The first week of April was the Highlander Hands Helping Halle fundraiser, where students wrote their name on a paper cut-out of a hand for any amount of money and taped it to a large banner in the school.

The second week, Student Council Treasurer Jason Hulet coordinated a student/faculty basketball game that raised more than $5,500.

“We sold tickets prior to it and accepted donations at the game,” Hulet said. “Halle attended and her school sang the National Anthem.” [Read more]

From WWMT, CBS News Channel 3, Western Michigan

W. Virginia woman finds kidney donor on craigslist

A West Virginia woman needing a kidney transplant found a donor through an unusual source--Craigslist.

Cindy Prettyman was given two options--dialysis or a kidney transplant.

With very little kidney function, she decided to be placed on the transplant list, but her son wasn't satisfied.

So, he posted a "Wanted" ad for a kidney on Craigslist and surprisingly, the family received a call the very next day.

"When she first called me and said she was going to donate...disbelief. I didn't believe anybody would be doing something like that, so I didn't really take it seriously," Prettyman said. "I didn't have a whole lot of feelings, but when she called and said, 'we're a match,' it was like, my heart started pounding."

Jacklyn Mellott and Cindy were complete strangers, but the two were a perfect match.

Jacklyn says donating one of her kidneys to a person in need was on her bucket list.

The transplant surgery will take place this summer.

From The Ulster Herald, Northern Ireland, United Kingdom

Greencastle woman donates kidney to seriously ill brother

ORGAN donation transforms lives, just ask Greencastle woman Roisin Hood. 

Last year the mother-of-three decided to donate one of her kidneys to her younger brother Conor. The transplant was one of four that took place within the close family circle inside a seven month period last year.

Speaking to the UH of her remarkable decision, Roisin has encouraged local people to sign the organ donor register. 

“Without doubt it is one of the best things you could ever do,” she said. 

Polycystic Kidney Disease has been a present feature for much of Roisin’s life. Twenty years ago she lost her mother Peggy Coyle to the disease at the age of 48. 

Growing up, the Greencastle woman and her three siblings knew there was a 50/50 chance of inheriting the genetic condition. 

In the end, it was only Roisin who escaped the clutches of the disease. 

“It was difficult knowing that the other three had it and I was the only one who didn’t,” she disclosed. 

In a bid to increase awareness of the condition and raise funds for the Polycystic Kidney Disease Charity, Roisin and Conor have organised a sponsored walk for this Sunday. 

Starting at McCrea’s Bar, Glenhull at 3pm, participants will have a choice of three or six mile routes around scenic Coneyglen. [Read more]

PKD Treatment & Research

From MedicalXpress

Statins given early decrease progression of kidney disease

Results from a study by University of Colorado School of Medicine researchers show that pravastatin, a medicine widely used for treatment of high cholesterol, also slows down the growth of kidney cysts in children and young adults with autosomal dominant polycystic kidney disease (ADPKD).

ADPKD is the most common potentially lethal hereditary kidney disease, affecting at least 1 in 1000 people. ADPKD is characterized by progressive kidney enlargement due to cyst growth, which results in loss of kidney function over time. At one time, ADPKD was termed "adult" polycystic kidney disease but researchers are finding that clinical manifestations may be evident in childhood and even in utero. This strongly suggests that earlier intervention in childhood may have the greatest long term effect on the progression of the disease.

"Based on our findings, we strongly recommend consideration of pravastatin use in ADPKD children and young adults unless there is a medical reason against taking a statin as determined by the patients' doctor," says the co-principal investigator Melissa A. Cadnapaphornchai, MD, from CU School of Medicine's departments of pediatrics & medicine, who conducted the study with Robert W. Schrier, MD, at the CU School of Medicine. "This is very exciting news as this is the first medication shown to help control kidney disease in ADPKD children."

The three-year study began with 110 children/young adults ages 8 to 22 years with ADPKD and finished with 92 participants. Each participant was randomized to receive either pravastatin or placebo completely by chance by a procedure similar to the toss of a coin. Treatment with pravastatin was associated with no significant side effects. However, it should not be used during pregnancy

The researchers emphasize that pravastatin is not FDA-approved for the treatment of ADPKD; therefore, it is essential that patients discuss the potential risks and benefits of treatment, including possible psychosocial and financial implications, with their doctor.

Kidney Shortage Issues

From TribLive, Pittsburgh, PA, Opinion by Abby W. Schachter

Here's how to end the black market in kidneys

This country is in the midst of a kidney crisis. Supply is not keeping up with demand. The costs of maintaining the sick on dialysis while they wait for transplants is exorbitant. And where there is supply, there are perverse incentives lowering the number of kidneys that actually make it to those in need.

There is a good solution to the problem — legal organ sales. But we seem unable to muster the courage to recognize that solution and change the law.

As the Trib's Luis Fábregas and Andrew Conte recently reported, in 2012 U.S. taxpayers spent more than $400 million on 13,296 kidneys, only to have one-fifth of those organs discarded. The kidneys cost $30,000 apiece and yet a significant percentage was thrown out instead of being transplanted into afflicted individuals. Transplant centers get punished for bad outcomes so it serves their statistics to discard kidneys rather than rack up too many failed transplants.

Yet, the statistics on those in need of a kidney are staggering, with more than 100,000 people waiting for a transplant. About 14,000 transplants were performed in 2011. But, on average, 4,300 die each year waiting for the cure that never comes. Meanwhile, in 2009, Medicare spent $29 billion treating kidney failure and dialysis costs 2.5 times as much as a transplant. Life expectancy also is much better with a transplant than with dialysis and transplants from living kidney donors are more successful than donations from cadavers. It would therefore be cheaper and more effective to have more transplants from living donors.

The best way to increase those numbers is to offer to pay people instead of allowing only noncompensated living donation. And given that our current system allows compensation for bone marrow, sperm donation and surrogacy, among other things, why isn't it OK to pay people for their kidneys? Not to mention that the black market in kidneys is booming. “It's ever growing. It's a constant struggle,” said Dr. Luc Noel, a World Health Organization official who monitors the transplant trade. “The stakes are so big, the profit that can be made so huge, that the temptation is out there.”

Legalizing the kidney market would serve several purposes. It would likely quickly erase the deficit of kidneys, U.S. taxpayers would save money since dialysis costs so much more than a transplant, the free market sale of kidneys most likely would lower the cost of each transplant, and it would offer those who need the money a legal, profit incentive.

Of course, there is plenty of opposition, either because for many the concept is repugnant or because medical care and the free market are perceived as mutually exclusive or because the poor, who would presumably take advantage of legal kidney sales, would somehow be exploited instead.

Compared with the desperate need among the hundreds of thousands of Americans suffering from kidney failure, the relative safety of transplant surgery for the donor and the economic benefits to taxpayers and compensated donors, these objections do not deserve to prevent a needed change to the law.