PKD Treatment with Dialysis, Football Sized Kidneys

PKD Treatment

From Oxford University Press

Outcome of autosomal dominant polycystic kidney disease patients on peritoneal dialysis: a national retrospective study based on two French registries

Abstract

Background

Pathological features of autosomal dominant polycystic kidney disease (ADPKD) include enlarged kidney volume, higher frequency of digestive diverticulitis and abdominal wall hernias. Therefore, many nephrologists have concerns about the use of peritoneal dialysis (PD) in ADPKD patients. We aimed to analyse survival and technique failure in ADPKD patients treated with PD.

Methods

We conducted two retrospective studies on patients starting dialysis between 2000 and 2010. We used two French registries: the French Renal Epidemiology and Information Network (REIN) and the French language Peritoneal Dialysis Registry (RDPLF). Using the REIN registry, we compared the clinical features and outcomes of ADPKD patients on PD (n = 638) with those of ADPKD patients on haemodialysis (HD) (n = 4653); with the RDPLF registry, those same parameters were determined for ADPKD patients on PD (n = 797) and compared with those of non-ADPKD patients on PD (n = 12 059).

Results

A total of 5291 ADPKD patients and 12 059 non-ADPKD patients were included. Analysis of the REIN registry found that ADPKD patients treated with PD represented 10.91% of the ADPKD population. During the study period, PD was used for 11.2% of the non-ADPKD population. Compared with ADPKD patients on HD, ADPKD patients on PD had higher serum albumin levels (38.8 ± 5.3 versus 36.8 ± 5.7 g/dL, P < 0.0001) and were less frequently diabetic (5.31 versus 7.71%, P < 0.03). The use of PD in ADPKD patients was positively associated with the occurrence of a kidney transplantation but not with death [hazard ratio 1.15 (95% confidence interval 0.84–1.58)]. Analysis of the RDPLF registry found that compared with non-ADPKD patients on PD, ADPKD patients on PD were younger and had fewer comorbidities and better survival. ADPKD status was not associated with an increased risk of technique failure or an increased risk of peritonitis.

Conclusions

According to our results, PD is proposed to a selected population of ADPKD patients, PD does not have a negative impact on ADPKD patients’ overall survival and PD technique failure is not influenced by ADPKD status. Therefore PD is a reasonable option for ADPKD patients.

Life After the Transplant

From Chronicle Live, United Kingdom

Man with American football-sized kidneys feared he would 'disrespect' donor when he piled weight on

Andy Howe, 50, of Consett, said the thought of damaging his new kidney and disrespecting his donor motivated him to lose three stone

When his kidneys failed Andy Howe got the life-saving transplant he dreamed of.

But afterwards his diet spiralled out of control, meaning he put on three stones in weight.

Now, the 50-year-old has transformed into a new man out of fears he would “disrespect” the donor who helped save his life.

Andy, of Consett , County Durham , was diagnosed with polycystic kidney disease - a genetic disorder that causes cysts to grow within the kidneys - and had to follow a strict diet and regime.

In 2012, his kidneys failed and had to be on dialysis every night at home for eight to 10 hours.

But his dream came true on September 24, 2015 when the Freeman Hospital in Newcastle called to say doctors had a potential kidney for him.

After undergoing a kidney transplant, Andy regained his appetite and gained three stone.

He said: “My kidneys stopped completely and I was on dialysis every night.

“It was very quite restrictive and there was a lot of veg that you couldn’t eat.

“I received a transplant that was really successful but I started to eat the wrong types of things.”

Andy started to enjoy burgers, kebabs, pizza and puddings - all things he was unable to eat on dialysis - and within a year he gained three stones.

Daily tasks, such as cutting the grass and hoovering the carpet, became difficult.

Due to his condition, Andy’s kidneys are each the size of an American football and constrict his lungs.

He said: “I was trying to tie my shoes one day and when I bent over I fell forward and bashed myself on the wall. I was really embarrassed.

“I was in the army and was really fit and played sport but I couldn’t do any of that with my kidneys being rubbish.”

Andy decided it was time to take action and admits he was inspired by his donor.

He said: “I thought if I don’t go I am going to damage this kidney that I have got donated from someone who died.

“I have got this kidney and I would not be respecting them.”

Andy joined Slimming World and in his first week lost 6 1/2 pounds.

“I lost one stone in three weeks,” he said. “I still wasn’t exercising as my kidney was still sore.

“I couldn’t run, so there was no exercise - it was purely following the plan.”

Since joining Slimming World, Andy has dropped from 14 stone 10lbs to 11 stone 10lbs.

“It has made me healthier. I have reduced my medication and I don’t have to go to the hospital to see the consultant as often,” he said.

PKD: Eligible for Disability Retirement? PKD Care: The New European View, PKD Treatment: A Global View

Living with PKD

From Press Herald, BY BETTY ADAMS, KENNEBEC JOURNAL

Mainer with kidney disease fights for disability retirement

WEST GARDINER — Terrence “Terry” Marks points to a picture that shows the kidney of a person with advanced polycystic kidney disease. Small cysts or blisters cover the exterior of the kidney, which is much larger than a normal kidney.

“That’s what my kidney looks like,” Marks said.

The disease, which runs in his family, has reached the stage where his kidney function was last rated at 16 percent — meaning it’s doing 16 percent of the work it should be doing to filter toxins from his system.

At 56, his immediate future holds transplant or dialysis, and the West Gardiner man has been preparing for both.

He’s also trying to figure out a way to help support himself and his wife while he gets treatment.

“How do you live and pay your bills?” Marks asked.

Marks was terminated from his state job in November 2015 because he was no longer physically able to perform his job after 19 years and 11 months as part of a state highway maintenance crew.

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.

Marks has exhausted his bids to get disability retirement from the Maine Public Employees Retirement System, and an appeal of that final rejection is pending at court in Augusta, where oral arguments are set for 9:30 a.m. Feb. 6, 2018.

Marks is represented in the appeal by attorney Paul Aranson of South Portland; Assistant Attorney General Christopher Mann represents the state retirement system.

“I would advise people to get an attorney early on because it’s not a user-friendly system,” Aranson said on Wednesday. “You have to know what you’re doing.”

He said different rules apply in the state system.

“In Social Security disability system, if you’re disabled any time within five years of stopping work you have ‘insured status,’ so you’re eligible for benefits,” Aranson said. “In the state system you have to be totally unable to do your job the last day of your job.”

Data from MainePERS indicates that 82 of the 121 disability applications handled in 2016 were denied initially. It also shows that 23 of the 73 appeals were granted at the agency level. Marks’ appeal was denied, which is why he has gone to court.

Terrence Marks’ wife Tina said they have been to Social Security and were told Terrence Marks is ineligible for Social Security.

“He was born with this. We knew about this in his 30s; it never affected us until November of 2015,” Tina Marks said. “We have to pay our bills. We have to live between the time his kidneys start failing and the time if and when he gets a transplant and if and when he goes back to work. So how do we live between that time frame?”

She said he should be eligible to get at least some of the money he’s paid into the state retirement system.

Marks went to a legislative committee hearing in April to speak in favor of changing laws regarding state disability retirement benefits.

However, that bill died.

At that hearing, Sandy Matheson, executive director of MainePERS, noted that 1,300 of 38,500 retirement members were on disability; the others were on service retirement. Another 51,000 were actively 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.

State Sen. Shenna Bellows, D-Manchester, who has been trying to help Marks and his family, said Tuesday she tried to introduce another bill in September to fix the problem, but that move was rejected as well.

“I think MainePERS disability benefits should be available to people awaiting transplants,” Bellows said. “After more than a decade of service. I think it’s important they receive the benefits to which they’re entitled.”

She said it’s an issue she plans to pursue in the future if she is re-elected to represent District 14 in the state Senate.

“This is a situation that’s just heart-breaking,” Bellows said. “Any state worker who’s facing this type of thing should have that coverage.”

The Marks also have gone to other state and federal legislators for help. In the meantime, Marks is now getting much of his medical treatment at the Veterans Administration hospital at Togus, where several of his former nephrologists now work. He retired after 24 years in the military, the first four in the U.S. Army and the remainder in the Maine Army National Guard where he was a truck driver and later a heavy equipment mechanic. He’s hoping to be re-evaluated for veterans benefits as well.

Marks also tried to access a pension he had through a former employer, but learned he must wait until he reaches normal retirement age.

Tina Marks, an assistant clerk at the West Gardiner Town Office where she has worked for almost 20 years, carries the family’s medical insurance, but her $29,000 annual salary makes them ineligible for other forms of aid, including Supplemental Security Income.

At home, Tina Marks keeps a file folder full of medical bills. The family pays a little on each every month. On Dec. 21, Tina Marks estimated they had about $15,000 in outstanding medical bills. They’re still paying a Maine Health bill for $26,000, their share of the cost of an angiogram done a few years ago.

“We’ve always paid our bills,” Terrence Marks said.

Tina Marks said it would mean a great deal if her husband could get access to any one of the accounts which contain money that he earned.

Her husband lists the problems: “I’m too young for my military retirement,” he said. “I’m too young for my Social Security. I’m too young (for a pension) from a previous job I had for nine years, and I’m too young for Maine State Retirement; we’re fighting that one.”

In late December, Terrence Marks looked healthy, so much so that friends tell him, “Terry, you’re looking good.”

He has a ready response: “If I was in a car accident or sprained an ankle wearing a cast, you can physically see it,” he said. “You can’t see the decline in my kidney.”

He recalls a former supervisor telling him he looked good. He said he responded by pointing to the picture of the bad kidney and saying, “This is what my gnarly kidney looks like.”

The man told him he was surprised because he had not understood previously.

Now that Marks is on the Maine Transplant Program through Maine Health’s Maine Medical Center, he’s also looking for possible kidney donors. No one in the family is eligible because the disease is genetic.

A couple of potential donors match his blood type, and he’s quick to point out that his insurance company will pay for the testing and the transplant.

Terrence Marks’ father suffered from the disease as well and received a kidney transplant.

Marks said he has asked himself, “Am I going to be like my father?” who had a transplant in 1988 and had to take numerous anti-rejection medications for the remainder of his life. He died in December 2002 at age 69.

Marks said he has been told that protocols have changed a lot over the past 30 years. And he’s still hoping that one of those income sources will come through soon.

From Univadis, United Kingdom

New position statement on polycystic kidney disease

The European Autosomal Dominant Polycystic Kidney Disease (ADPKD) Forum has urged a more holistic approach to the care of patients with ADPKD.

In a new position statement, published in Nephrology Dialysis Transplantation (NDT), the forum recommends that individuals with ADPKD be given access to lifelong, multidisciplinary, specialist and patient-centred care involving a holistic and comprehensive assessment of the manifestations, complications, prognosis, and impact of the disease on the patient and their family. It states that patients should have access to treatment to relieve symptoms, manage complications, preserve kidney function, lower the risk of cardiovascular disease, and maintain the quality of life. Information and support should also be accessible to help patients and their families to be fully informed and to be active partners in care.

“This position statement takes a holistic view of ADPKD – and this is what makes it so valuable. It puts the patients at the centre, not the disease," said Professor Denis Fouque, NDT 's editor-in-chief. “It is not about evaluating single treatment options and comparing outcome. Instead, it gives a full picture of the disease and explains what patients really expect from ADPKD therapy.”

From Island Post Gazette, British Columbia, Canada

Global Polycystic Kidney Disease Treatment Market 2017 – Recent Study Including Growth Factors, Applications, Regional Analysis, Key Players and Forecasts till 2022

An up-to-date research has been disclosed by Questale highlighting the Global Polycystic Kidney Disease Treatment segment. The report deep dives into the dynamics of Global Polycystic Kidney Disease Treatment providing useful and unique insights. The information is shared in a precise and structured manner, giving executives and leaders an accurate picture of the upcoming market movement. The document utilizes a number of monographs, pie charts and bar-graphs to provide data which can be used to derive the latest trends in the industry. The report is also divided according to usage wherever applicable, including (but not limited to) FnB, FMCG, Minerals, Electronics, Pharma, Polymers etc. All these details are available for all major countries and associations – APCA, EMEA, United States. Other locations can be included in the report on demand.

The document includes present industry magnitude of Global Polycystic Kidney Disease Treatment and the movement since past 5-10 years. Moreover, the list of major companies/competitors is also present includingAngion Biomedica Corp , Aptevo Therapeutics Inc , Celgene Corp . The competition data allows users to gauge their current position against the market and take corrective measures to increase or maintain their share holds. Furthermore, details regarding the supply chain, manufacturers, distributors are also included in the report.

The document contains a comprehensive description of all the firms in question. The necessary details for the companies in Global Polycystic Kidney Disease Treatment , such as revenue, % share, supplier information, images of products are provided as well. Some of the known key players in the market are Angion Biomedica Corp , Aptevo Therapeutics Inc , Celgene Corp . It is expected that the industry will continue to develop in a swift manner with new competition trying to capture the share of the pie. Given the industry regulations, international government policies, state-of-the-art innovations – the competition would be fierce for all the participants.

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Expert advice for executives to make an impact in the industry

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What is the expected industry size of Global Polycystic Kidney Disease Treatment market in 2022?
Expected rate of growth to reach the potential?
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PKD, Understanding Types of Kidney Cysts, Gift of Life from: Navy Seal; Runner to Coach

Kidney Cysts

From Times Life Style, by Paul Becker

What Are Kidney Cysts? Kidney Cysts Symptoms, Causes, and Treatments

Kidney cysts are one of the many factors that affect the kidney health. A cyst is a small fluid-filled sac which forms inside the kidneys. Kidneys are responsible for filtering out the wastes from the bloodstream and dispose it out from the body in the form of urine. An individual can suffer from both single cyst and multiple cysts.

The human kidneys are affected by two types of cysts – simple cysts and polycystic kidney disease. A simple cyst is formed of thin walls and is usually an individual cyst filled with a water-like fluid. A simple cyst doesn’t harm the kidney health nor does it affect its functioning.

Polycystic Kidney Disease (PKD), on the other hand, is an inherited condition in which the patient suffers from multiple cysts inside his/her kidneys. PKD can harm the kidneys in a bad way. The more it grows the more harm it does.

However, the cysts don’t cause any symptoms and are usually harmless. An individual may not even realize that he/she has cysts in his/her kidneys until he/she has undergone a test for some reason.

The size of a kidney cyst and what does it mean

In normal cases, the cysts are too small to be seen with the naked eye. The doctors use microscope to examine such cysts. However, in case of PKD, the cysts can sometimes grow as large as a tennis ball. Larger cysts pose as a threat to other organs as they can press against the nearby organs causing severe pain.

Kidney Cyst Symptoms

Simple cysts are known for not causing any symptoms but in case of PKD, when the cysts grow larger and become infectious; it can cause the following symptoms.

For Simple Cyst 
Dark urine
Blood in the urine
Uncontrollable bladder
Swelling of the abdomen
Upper abdomen pain
Back pain, upper body pain, pain in the side between the pelvis and ribs. Happens when the cyst tends to pop or burst.
Fever

For Polycystic Kidney Disease (PKD) 
Blood in the urine
Upper body pain, pain in the sides and back
High blood pressure

Kidney cysts causes and risk factors

The mystery behind how simple cysts are formed is still a mystery. The doctors don’t know the exact reason why simple cysts are formed, but they do have few possible explanations.

A human kidney is composed of millions of tiny tubules that collect the urine. The theory says that when these tubules get blocked due to some reason or swell up or fill with liquid, cysts may start to grow.

Another theory suggests that when small pouches known as diverticula filled with liquid starts forming in the weakened areas of the tubules, it may trigger the cyst formation.

Cysts are likely to affect an individual when he/she gets older. 40 years is the cyst triggering age. By the age 40, 25% of the people are likely to get affected by the simple cyst. However, men are more prone to developing cysts in their kidneys as compared to women.

Polycystic Kidney Disease (PKD), on the other hand, is caused mostly because of the inheritance. Those with a family history of cysts are more likely to get affected.

Cyst Complications

Cysts are not that complicated but sometimes it can lead to;
High blood pressure
Burst cyst
Infection in the cyst
Blockage of urine
PKD, on the other hand, can easily damage the kidney health with time.

Cyst Treatment

Urologists are the one who deals with patients suffering from kidney complications. The urologist will take the urine and blood sample of the patient to see how his/her kidneys are functioning.

For diagnosing cysts, the urologist will perform the following tests:
Computer Tomography (CT) Scan
Magnetic Resonance Imaging (MRI) Scan
Ultrasound

Simple cysts can be easily cured by consuming probiotic kidney health supplement and other healthy foods. Also, there are several medications for cysts prescribed by the doctors.

In case of PKD, the treatment includes:

Surgery – cysts are removed laparoscopically by making small multiple incisions.

Sclerotherapy – in sclerotherapy, the doctor drains out the cyst. The doctor uses an ultrasound for navigation and the patient is given simple anesthesia as it can be a painful affair.

Gift of Life

From People

Stranger Provides Transplant For a Desperate Mother of 3: 'I Love Her Just Like She Was Family'

Though he didn’t know her, a former Navy SEAL came to a mother’s rescue just as pressure was mounting to find her a life-saving organ donor.

As 35-year-old Melinda Ray’s health deteriorated due to a polycystic kidney disease that spread to her liver, she and her husband, James Ray, were desperate to find a transplant. The condition caused continually spreading cysts to develop on Melinda’s liver, which led to it growing larger in size and placing stress on the rest of the organs in the increasingly cramped space.

The couple, who have three children and live in Colorado, came up empty-handed in their search for donor candidates, and as Melinda’s strength weakened, she turned to Facebook in September that detailed her emotional ordeal and offered a last-ditch call for help.

That Facebook message reached Robin Ihnfeldt, a best friend of Melinda’s sister, who texted the story to her husband, Jeff Bramstedt. The former 13-year Navy SEAL veteran instantly felt compelled to help the woman he had never met.

“When my wife told me about it, it just wasn’t okay with me that somebody was going to die,” Bramstedt, 47, of San Diego, California, tells PEOPLE. “It took me literally two seconds to make a decision and I just said, ‘I’ll do it, let’s go.’ ”

With Bramstedt on board, he and his wife both signed up to go through the screening process to find out if they were matches. Though his wife didn’t qualify because doctors discovered her blood clotted too quickly to undergo the surgery, Bramstedt continued on with the screening process, answering questions about his social history and taking blood samples, until doctors flew him out for more intensive tests. Then, around Thanksgiving, he returned to UCHealth University of Colorado Hospital for the pre-op, where he met Melinda and James for the first time.

“As soon as I saw her, I was just instantly connected to her. They’re just such amazing people,” Bramstedt recalls. “We just talked for about an hour, and just got to learn about each other’s families, and we knew right away we were going to be connected for life.”

After doctors solidified Bramstedt as a match, he agreed to undergo a 10-hour-long surgery to give Melinda 30 percent of his liver that would eventually regenerate. Doctors explained he would be placing himself at great risk by undergoing the operation, but not one to let danger get in the way of things, Bramstedt—a movie stuntman and a skydiving instructor at Skydive San Diego—was set on going through with it.

On Dec. 4, the pair underwent successful surgeries, led by Dr. Elizabeth Pomfret. Bramstedt then spent two days recovering in the ICU, and once he was released, he and his wife stayed with a friend in Denver as he recuperated.

“My wife monitored my meds, and took care of me,” he says. “I don’t listen to doctor’s orders very well, so she was definitely the doctor’s lieutenant on that—very strict!”

Going on three weeks after the operation, Bramstedt says he is running on about a “three-hour battery” and is sleeping much of the day. But things are getting better, and he keeps in contact with Melinda and James often.

“I never had a little sister before, and now I do,” Bramstedt says. “I love her just like she was family, like she was a blood relative. In essence, she kind of is, we share DNA at this point. She’s stoked on life, and I’m excited for her.”

He says the experience changed the way he views the world, and he hopes other healthy people are inspired to become organ donors and support services such as those provided by UCHealth.

“If you have health and are strong, and if you are young and have all this energy and love to be active, maybe you are a prime candidate for somebody and can affect their lives in a positive way,” he says. “An average guy can step up and be a hero to somebody whose life is going to end. Hopefully, we can make my and Melinda’s story not so extraordinary.”

From Chicago Tribune, by Donna Vickroy

'An amazing sacrifice': Runner to donate kidney to Homewood coach

It's hard to top the gift Rich Matula soon will be receiving from his friend, Mike Blake.

"It's humbling," Matula said. "It's an amazing sacrifice."

On Jan. 9, Blake, an accountant from New Lenox, will donate a kidney to Matula, a marketing manager from Homewood.

The donation will not only enable Matula, who was born with polycystic kidney disease, to avoid having to go on dialysis, it should enable him to continue his lifelong pursuit of running.


Maybe, Matula joked, he might even be able to "beat Mike in a race."

Matula, who is married and has a 5-year-old son and 20-year-old stepdaughter, has been coach for the Tinley Track and Trail running club for 15 years.

The group is made up of 50 men and women from the south suburbs and Northwest Indiana, committed to improving their times. They practice in Tinley Park, Orland Park and Palos Heights, and compete in events, from 5Ks to the Boston and New York City marathons.

Blake is a longtime member. He is known for his speed, and he acted fast last year when he learned the severity of Matula's condition.


"I had called him for some running advice," Blake said.

During the conversation, Blake asked Matula about his kidney function. When he learned it had dropped to 16 percent and that his beloved coach was on the waiting list for a transplant, he offered to get tested.

That initial testing took place exactly one year before the transplant surgery is set to occur.

As extraordinary as his gift is, Blake said any member of the club would have offered to donate a kidney to Matula if he hadn't beaten them to it.

"Rich is so loved by this group," Blake said. "Anyone would do this for him. I just happened to be the one who got tested first."

Dr. Yolanda Becker, surgeon and director of the kidney and pancreas program at the University of Chicago, where the transplant surgery is scheduled to take place, said, "This is the ultimate Christmas gift; it is truly the gift of life."

The transplant, she said, "is going to change Rich's life, in terms of how he feels."

She said Matula, who is system director for customer relationship management at Presence Health, helped himself as much as he could by staying healthy and staying fit, even as his kidney function declined, and his energy level waned.

"He has done all the right things to keep himself as healthy as possible for as long as possible," Becker said.

But, she added, he also is lucky to have a donor who is not only a close friend, but one who is also in great shape.

According to the United Network for Organ Sharing (unos.org/), there are 103,000 patients on the kidney transplant waiting list.

"In a typical year, only about 16,000 transplants will take place, and of those, just over 5,000 are from living donors," Becker said. "So there's a huge inequity, and people die on the waiting list."

The surgery will leave both men with one healthy, efficient kidney and that, Becker said, is all a healthy human needs to live a "normal lifespan and a normal lifestyle."

The recipient's insurance pays for the donor's workup, she said, and should something befall the donor's kidney function in the future, he would be moved to the top of the donor waiting list.

Becker said as "wonderful" as it is for the recipient, organ donation is also an opportunity for the donor to change someone's life.

That sentiment was something close to Blake's heart. He said in addition to wanting to help his friend, he embraced the chance to impact another human being.

"My wife did in-home day care for years. She affected a lot of people's lives. These (grown) kids still come and visit her. I've always been a little envious of her ability to impact others," Blake said.

"I'm an accountant. In my job I don't affect anyone's life in a positive way. I know I affect my children's lives and my wife's life, but it feels good to affect someone else's life," he said.

Blake and Matula are 53, in the same age group for competing.

"When I was healthier," Matula said, "we'd compete against each other. Mike probably beat me 80 percent of the time."

He's hoping the new kidney will bring some new bragging rights, as well.

"That's the real reason I'm giving it to him," Blake joked. "I got tired of his kidney excuse. So now when I beat him, it'll be even more awesome because he'll have three kidneys to my one."

On a serious note, Blake said he doesn't expect the surgery to affect his running ability, but if it does, "it still will have been well worth it.

"If I was in my prime," he said, "it might matter. But I'd still do this for him."

Club member Donnie Smith, who lives in St. John, Ind., said the whole team is pulling for the man who has been a support and an inspiration to each of them over the years.

"Rich cares. He sees everything. He pushes us to be our best," said Smith, a 44-year-old commodities broker.

There's a deep admiration, Smith said, "for people who inspire you to do your best work.

"Rich is a natural coach," he said.

For the team to be able to turn the tables and encourage him through the surgery is only fitting, he said.

When Rudy Cvetkovich, of Homer Glen, joined the group eight years ago, "I was kind of slow."

Matula and the other runners, he said, "pushed me to reach my potential."

This past year, Cvetkovich, 51, qualified for the Boston Marathon.

"These guys are my best friends," Matula said. "We race together, we train together. Through the blood, sweat and tears, you form a brotherhood."

On the day of transplant, Blake's surgery is expected to start two hours before Matula's.

"As soon as my kidney comes out, he'll be ready to receive it," Blake said.

"We've been told we could end up in rooms next to each other," he added.

If so, the two will be able to rib each other during recovery.

"Mike has the worst sense of direction," Matula said. "So, we're kind of worried that might pass over with his kidney."

dvickroy@tribpub.com

PKD Foundation Washington Summery

PKD Politics

From PKD Foundation

Washington Summary December 2017

Tax Reform and Health Care

The details of the final tax bill (HR 1) were released on Dec. 15. Here are the provisions impacting health-related issues.

Deduction of medical expenses: The final bill states that for two years (2017 and 2018 tax years), taxpayers will be able to deduct medical expenses above 7.5 percent of their income. In 2019, the bill returns to the current status – permitted medical deduction to expenses above 10 percent of income.

Orphan Drug Tax Credit: The final bill cuts the tax credit in half; in the future it will be 25 percent of eligible expenses. The PKD Foundation and many other patient advocacy groups supported retaining this vital tax credit. Although we are pleased that the credit was not eliminated, we are disappointed that it is being reduced.

ACA individual mandate: The final version contains the Senate language that repeals the individual mandate.

Tuition for graduate students: The bill keeps the present tuition exemption for certain graduate students. This is particularly important for biomedical grad students who also are conducting research on rare diseases such as PKD.

Each household’s tax situation is unique. The impact of the new tax bill will depend on income, family situation, residence, and other factors. For more details on the final version of HR 1, visit the Ways and Means Committee website at house.gov and the Finance Committee website at senate.gov.

Congress continues to discuss ways to stabilize the ACA individual insurance market by providing cost-sharing reduction (CSR) funds. More than 200 groups have endorsed the proposal drafted by Sens. Lamar Alexander (R-TN) and Patty Murray (D-WA). Sens. Susan Collins (R-ME) and Bill Nelson (D-FL) have their own proposals to stabilize the individual insurance market through direct funding and a reinsurance program similar to previous state-based risk pools. Whether any of the efforts will be included in the next spending package (the continuing resolution or CR) remains to be seen.

Fiscal Year 2018 NIH Funding

In September, the House passed a bill that increases funds for NIH by $1.1 billion over the FY17 funding level. The Senate Appropriations Committee approved a proposal to increase NIH funding by $2 billion in FY18.

The current continuing resolution (CR), which is funding NIH at last year’s level, expires on Dec. 22. If Congress does not pass another CR, most government agencies (including NIH and FDA) will close operations temporarily.

There still is time for advocates to contact Congress with a simple message: accept the $2 billion Senate funding level increase for NIH for the rest of FY18.

Essential Health Benefits

In early November, CMS issued proposed rules that would make it easier for states to define “essential health benefits (EHB)” for health insurance coverage. Interested groups (such as insurers, hospitals, providers, and regulators) raised numerous questions about the changes. Some even stated that allowing states to change EHB would return the insurance market place to its pre-ACA situation when pre-existing conditions prevented people from purchasing affordable and comprehensive insurance to cover their medical needs.

CMS is reviewing the public comments on the proposal and will issue final regulations in the near future.

Medicare and Chronic Kidney Issue

The bipartisan Care Demonstration Program for Chronic Kidney Diseases bill (HR 3867) would establish a pilot program to encourage health practitioners to identify early systems of CKD. The goal is to lower overall health care costs by providing better treatment for CKD patients. Reps. Markwayne Mullin (R-OK), George Holding (R-NC), GK Butterfield (D-NC), and Linda Sanchez (D-CA) introduced the bill.

Veterans and Organ Transplants

In November, the House passed HR 1133, the Veterans Transplant Coverage Act. The bill would allow an eligible veteran to receive an organ transplant from a non-veteran at any convenient medical facility, whether a VA hospital or not.

Sen. Dean Heller (R-NV) introduced a similar bill in the Senate (S 115). Sen. John Cornyn (R-TX), the Majority Whip, is a cosponsor.

Bills of Importance to the PKD Community

Living Donor Protection Act (HR 1270/no Senate bill yet) would remove barriers to living organ donation. Rep. Jerrold Nadler (D-NY) and Rep. Jaime Herrera Beutler (R-WA) introduced the bill. PKD and several other patient groups have signed a letter urging House Members to cosponsor HR 1270.

The OPEN Act (HR 1223/ S 1509) would make it easier for companies to repurpose approved drugs for treating rare diseases. Reps. Gus Bilirakis (R-FL), GK Butterfield (D-NC), and Mike McCaul (R-TX) introduced HR 1223. Sens. Orrin Hatch (R-UT) and Robert Menendez (D-NJ) introduced S 1509.

Say Thanks to Supporters

Too often we forget to thank those elected officials who support proposals of importance to the PKD community. The following Senators and Members of Congress have cosponsored either the OPEN Act or the Living Donor Protection Act since the previous newsletter. If any of them represent you, please say “thank you” the next time that you contact them.

HR 1270, Living Donor Protection Act
Rep. Jim Costa (D-CA).

Last month we reported that Rep. Terri Sewell (D-AL) and Rep. Jim Clyburn (D-SC) were new sponsors – this is due in large part to the work of the PKD Foundation and our collaboration with former Congresswoman Karen Thurman (1993-2003) who worked on our behalf to secure these key supporters. Thank you Rep. Thurman for your tireless work on behalf of PKD patients everywhere!

Stay Alert

When the time comes, we will ask PKD advocates to immediately contact their elected officials to protect your interests. Your voice needs to be heard.

PKD Kidney Transplant: 2-Staged Procedure Offers Better Outcome, VICTOR Act for Transplants

Kidney Transplant

From Journal of American College of Surgeons 

Kidney Transplant With and Without Native Nephrectomy for Polycystic Kidney Disease: Results of the National Inpatient Sample and the Rationale for a 2-Staged Procedure

Abstract

Background

Polycystic kidney disease (PKD) is one of the most common causes of end-stage renal disease requiring hemodialysis or transplantation. In patients requiring transplant, there are several indications for native nephrectomy, including recurrent cyst infection, bleeding, or to provide room for the graft. There is disagreement about whether it is advisable to perform kidney transplant alone (KT), or to perform kidney transplant with simultaneous native nephrectomy (KTN). We compared postoperative outcomes of KTN and KT in a large national cohort.

Study Design

The Nationwide Inpatient Sample (NIS) between 2000 and 2014 was examined for a diagnosis of PKD with evidence for KT or KTN. Logistic regression, adjusting for age, sex, comorbidity, and hospital region, was used to compare groups for the need for blood transfusion, the need for critical care interventions, and the development of postoperative complications.

Results

A total of 4,003 hospitalizations were identified, which was representative of 19,302 weighted discharges nationally. In adjusted logistic regression models, KTN demonstrated significantly higher risk for blood transfusion (OR 2.06, 95%CI [1.44, 2.96], p<0.0001), postoperative complications (OR 1.44, 95%CI [1.05, 1.96], p=0.02) and critical care interventions (OR 1.44, 95%CI [1.07, 1.95], p=0.02). Other significant predictors for blood transfusion included female sex (OR 1.76, 95%CI [1.45, 2.13], p<0.0001), age over 61 years (OR 1.60, 95%CI [1.21, 2.10], p=0.001) and Charlson comorbidity score ≥2 (OR 1.52, 95%CI [1.10, 2.09], p=0.01).

Conclusions

Among patients with PKD, in comparison to KTN, KT-alone represents a decreased risk for negative postoperative outcomes. A 2-staged procedure should be considered, when feasible, to minimize adverse patient outcomes.

From Knox News, Knoxville, TN, by Terrence Jay O’Neil, Guest column

VICTOR Act would greatly improve lives of veterans with kidney failure

Imagine it’s 5:30 in the morning and you have to be at the clinic by 6:30. You had a pretty good day yesterday. Not too much achiness or shortness of breath, and you slept fairly well last night. You bolt down a light breakfast, get in your car and drive the 20 miles to the dialysis clinic you go to three times a week.

You check in, and after a few minutes you are sitting in a recliner surrounded by other people like yourself with kidney failure. You have two one-eighth-inch-wide needles stuck in your left arm. Those needles are pulling a soft-drink can full of blood out of your body every minute, cleaning it and returning it. You know that you will probably be going home with two bandages over the needle sites to prevent bleeding, feeling tired, nauseated, with muscle cramps and a headache, and you will have to lie down for a good part of the rest of the day to recuperate.

On treadmill for rest of life

Imagine doing that over and over. For the rest of your life. With no hope of getting off the treadmill. Worse, imagine you are an East Tennessee veteran of limited means who served his country faithfully and trusted what you thought were lifelong military health care promises and so you never got commercial health insurance or signed up for full Medicare.

You cannot get off dialysis because you lack means to travel over 300 miles to a VA transplant center in Nashville, Lexington, Ky, or Birmingham, Ala., for transplant evaluation and if you are lucky, the surgery. Because the VA is currently forbidden by law to use money under the CHOICE program for kidney transplants at non-VA facilities, you can’t afford a transplant at the excellent University of Tennessee Medical Center transplant program at Knoxville.


This effectively condemns you and many other East Tennessee veterans with only VA coverage who are potential kidney transplant recipients to dialysis forever.

Transplants a possibility

In May U.S. Rep. Neal Dunn, R-Fla., proposed the Veterans Increased Choice for Transplanted Organs and Recovery Act of 2017, otherwise known as HR 2601, or the "VICTOR Act of 2017”. If approved, this bill would allow many East Tennessee veterans to be evaluated and get on the list to receive kidney transplants at Knoxville. The quality of their and their families’ lives would be dramatically improved. Many could return to work at least half time to help support themselves and their families. Very few of those on dialysis can work to help support themselves because dialysis takes up so much time and dialysis patients just don’t feel well enough to work.

If the VICTOR Act is made law, the government would save money because transplant maintenance is cheaper than dialysis. Each year of hemodialysis costs $85,000. Peritoneal dialysis (another form of kidney failure treatment) costs $60,000. Transplants have a one-time cost of about $120,000 but every year after that maintaining the transplant drops to $30,000. So, after three years, money is saved. Using today’s advanced medications, half of kidney transplants continue to work for 10 years, and a quarter are still working at 20 years. So, the savings can go on for a long time.

If you put yourself in the place of that veteran, you can see why the VICTOR Act is the right thing to do. It improves the quality of the lives of those who have helped defend us. It saves money in the long run. I urge community support through our local legislators the VICTOR Act.

Terrence Jay O’Neil is a retired colonel of the U.S. Air Force Medical Corps

Irrational Kidney Transplant Policy, Tolvaptan Results, Breath Test the Kidney, PKD Blogger Valen Keefer Receives Award

Kidney Transplant

From Washington Post, Opinion: By Marcello Tonelli and John Gill

Our Medicare policy for kidney transplants is totally irrational

Marcello Tonelli is associate vice president of research at the University of Calgary. John Gill is a clinician scientist and professor of medicine at the University of British Columbia and a member of the board of directors for the American Society of Transplantation. They are both former presidents of the Canadian Society of Nephrology.


Kidney transplants are universally acknowledged as the best treatment for kidney failure. Compared with remaining on dialysis, transplant recipients live longer, have better quality of life, are more likely to raise a family, have fewer symptoms and incur far fewer health-care costs.

After a successful transplant, keeping the kidney functional requires lifelong use of immunosuppressive medications, which prevent the recipient’s body from rejecting the new organ. These medications provide excellent value for money since they allow the patient and society to reap the benefits of kidney transplantation.

As researchers from Canada, we’ve studied health care for those affected by kidney disease in the United States and other developed nations. Since 1972, Medicare has provided coverage to patients with kidney failure, regardless of age or disability status. However, while there is no time limit for dialysis patients, kidney transplant recipients who are not otherwise eligible for Medicare lose their coverage 36 months after they receive their transplant — leaving many unable to pay for immunosuppressive medications. Without access to these medications, patients eventually lose their transplants and require dialysis treatment instead.

This policy is irrational, since Medicare has already paid for the kidney transplant and will pay to treat the patient with dialysis — despite its markedly higher cost — when the transplanted kidney fails.

Our research has shown the United States stands alone in allowing this situation to exist. All other wealthy nations recognize the benefits of immunosuppressive medications and cover their costs for patients with functioning kidney transplants.

Funding these medications would save hundreds of millions of dollars annually in direct medical costs. Between 2008 and 2012, the most recent data available, the average annual Medicare cost for a transplant recipient was $22,000 compared with $47,000 for a dialysis patient. But those costs are much higher — at $84,000 — for patients who suffered transplant failure and had to return to dialysis. And if you look at only the patients who died after a transplant failure, average costs skyrocket — to $201,000.

Failing to provide lifelong coverage also dishonors the gift of life made by thousands of kidney donors each year, since denying such access means that some of these gifts will be in vain. We estimate that in the past five years, 7,700 patients have needlessly lost their kidney transplants, 900 patients have prematurely died and Medicare has squandered nearly $1 billion in health-care costs that could have been averted if only funding for immunosuppressive medications had been secured.

Even more frustrating, a legislative remedy — commonly known as “the immunosuppression bill” — is already available. Lawmakers first proposed the bill in 2011, but it has repeatedly stalled.

This bill would allow Medicare-eligible kidney transplant recipients to receive life-saving immunosuppressive medications for as long as their transplant continues to function. Ironically, failure to pass this bill into law during the Obama administration may in part be due to its bipartisan support, which gave little political advantage to passing it.

It is impossible to justify continued inaction: The problem and its solution are both straightforward. The machinery required to fund, prescribe and deliver immunosuppressive medications is in place. All that is needed is the political will to pass legislation and allow U.S. patients to benefit.

PKD Research

From MedScape, by Nisha Bansal, MD, MAS

The Latest on Tolvaptan and Kidney Function Decline in Later-Stage ADPKD Patients

Autosomal dominant polycystic kidney disease (ADPKD) now is the fourth leading cause of end-stage renal disease (ESRD). ADPKD develops when the genes encoding polycystin 1 and polycystin 2 are disrupted, which leads to cyst development and eventual destruction of renal parenchyma.

Vasopressin promotes kidney-cyst cell proliferation and fluid secretion; thus, suppression of vasopressin or blockade of a vasopressin receptor may reduce cyst burden and thus improve kidney outcomes. Tolvaptan is a competitive vasopressin receptor antagonist with potential therapeutic applications in ADPKD.
Review of Recent Trials on Tolvaptan and ADPKD

In 2012, the Tolvaptan Efficacy and Safety in Management of Autosomal Dominant Polycystic Kidney Disease and Its Outcomes (TEMPO) trial investigators randomly assigned 1445 ADPKD patients with creatinine clearance >60 mL/min and a total kidney volume of 750 mL or higher to receive tolvaptan versus placebo.[1] The trial found that over a 3-year period, total kidney volume increased less in the tolvaptan group (2.8% per year vs 5.5% per year in the placebo group).

Tolvaptan was also associated with slower decline in kidney function per year compared with placebo. However, the tolvaptan group also had greater rates of adverse events related to aquaresis and hepatic abnormalities, which led to a higher discontinuation rate.[1] In a follow-up study, the investigators found sustained beneficial effects with tolvaptan use on estimated glomerular filtration rate (eGFR) 2 years after the completion of TEMPO.[2]

In a recent issue of the New England Journal of Medicine, the authors of the REPRISE (Replicating Evidence of Preserved Renal Function: an Investigation of Tolvaptan Safety and Efficacy in ADPKD) trial studied the effects of tolvaptan on kidney function among ADPKD patients with more advanced kidney disease, defined as eGFR of 25-65 mL/min/1.73 m2 (mean eGFR, 41 mL/min/1.73 m2).[3]

The study had 1496 patients enter a single-blind tolvaptan period. The 1370 patients who were able to tolerate tolvaptan without adverse effects were randomly assigned to receive either tolvaptan (doses of 90-120 mg/day) versus placebo. Randomization was stratified according to baseline eGFR, age of the patient, and total kidney volume.

Overall, characteristics of patients at baseline were balanced between the two groups. Most patients assigned to the tolvaptan group, and who completed the trial, were taking 90 mg morning and 30 mg afternoon doses daily.

At 1 year, the mean change in eGFR (with adjustment for the trial duration for each patient) was -2.34 ± 0.24 mL/min/1.73 m2 in the tolvaptan group compared with -3.61 ± 0.24 mL/min/1.73 m2 for the placebo group, which was statistically significant. Overall, the difference in eGFR decline at 1 year between the groups was 1.27 mL/min/1.73 m2. Per the investigators, a change of this magnitude could potentially extend time to ESRD from 6.2 to 9 years in this population.

When examining subgroups, the beneficial effect of tolvaptan on eGFR change was not statistically significant among patients >55 years of age, those who were not white, or those with stage 2 chronic kidney disease (CKD).

It should be noted that the rates of serious adverse effects were higher in the tolvaptan group (12.5% vs 8.8%), and rates of liver-related events were particularly high (10.9% vs 5.3%). The discontinuation rate of the study drug was also higher in the tolvaptan group (9.5% vs 2.2%).
Findings From the REPRISE Trial—Where Do We Stand?

So what does this trial tell us? The findings from REPRISE suggest that among a younger population of ADPKD patients with moderate CKD, who could tolerate tolvaptan without an unacceptable level of side effects, there was a net difference in eGFR decline of 1.27 mL/min/1.73 m2 over 1 year compared with patients taking placebo.


A significant limitation in the study design was the use of a continuous eGFR outcome (which is "noisy" and can be less precise) rather than a "hard" outcome such as 50% decline in eGFR or ESRD. It remains to be seen whether the benefit is sustained after 1 year and whether tolvaptan affects total kidney volume. Finally, the overall risks (in terms of tolerability and adverse effects) versus benefits will need to be carefully considered before starting tolvaptan in patients with late-stage ADPKD.

From Journal of American Physiology Society, by Lisa M. Guay-Woodford

Murine models of polycystic kidney disease: molecular and therapeutic insights

Abstract

Numerous murine (mouse and rat) models of polycystic kidney disease (PKD) have been described in which the mutant phenotype results from a spontaneous mutation or engineering via chemical mutagenesis, transgenic technologies, or gene-specific targeting in mouse orthologs of human PKD genes. These murine phenotypes closely resemble human PKD, with common abnormalities observed in tubular epithelia, the interstitial compartment, and the extracellular matrix of cystic kidneys. In both human and murine PKD, genetic background appears to modulate the renal cystic phenotype. In murine models, these putative modifying effects have been dissected into discrete factors called quantitative trait loci and genetically mapped. Several lines of experimental evidence support the hypothesis that PKD genes and their modifiers may define pathways involved in cystogenesis and PKD progression. Among the various pathway abnormalities described in murine PKD, recent provocative data indicate that structural and/or functional defects in the primary apical cilia of tubular epithelia may play a key role in PKD pathogenesis. This review describes the most widely studied murine models; highlights the data regarding specific gene defects and genetic modifiers; summarizes the data from these models that have advanced our understanding of PKD pathogenesis; and examines the effect of various therapeutic interventions in murine PKD.

Kidney Failure Detection

From WINK-TV, Southwest Florida

Breath test could provide non-invasive detection of kidney failure

It is one of the top ten leading causes of death and affects five million people in the U.S. Now, doctors at the Cleveland Clinic are testing a new, non-invasive way to detect kidney failure.

Doctors can test your blood and urine for diseases, but now a new device is allowing them to test your breath.

Raed Dweik, MD, Director of Pulmonary Vascular Program at Cleveland Clinic explained, “If you can do it at the side of the road, you can do it anywhere.”

He believes that you can see the health of a patient through their breathprint.

“Anything that is potentially volatile in our blood comes up in the lung and can be measured in exhaled breath,” continued Dr. Dweik. Such as kidney failure.

A healthy kidney gets rid of wastes and toxins in a person’s blood. When the kidneys are not functioning properly, they can cause kidney stones and possibly death. Dr. Dweik and his team are trying to prevent this, by testing for kidney failure using a breathalyzer. In a study of patients with kidney failure and healthy volunteers, he was able to identify five volatile organic compounds in the breath of patients with kidney failure. The device is still being analyzed before it goes to clinical trials.

Researchers also plan to study the effects of dialysis on kidney failure patients’ breathprint. Dr. Dweik has worked on other breath test studies as well, developing breath tests for asthma, heart failure, liver disease, and obesity.

BACKGROUND

Ten percent of the population worldwide is affected by chronic kidney disease (CKD), and millions die each year because they do not have access to affordable treatment. Over 2 million people worldwide currently receive treatment with dialysis or a kidney transplant to stay alive. High blood pressure and diabetes are the main causes of CKD. Almost half of individuals with CKD also have diabetes and/or self-reported cardiovascular disease. More than 661,000 Americans have kidney failure and of those, 468,000 individuals are on dialysis and roughly 193,000 live with a functioning kidney transplant. Kidney disease often has no symptoms in its early stages and can go undetected until it is very advanced. This is the reason it is often referred to as a “silent disease.” Each year, kidney disease kills more people than breast or prostate cancer. In 2013, more than 47,000 Americans died from kidney disease.

CURRENT TREATMENTS

If your kidneys can’t keep up with waste and fluid excretion on their own and you develop complete or near-complete kidney failure, you have end-stage kidney disease. At this point, dialysis or a kidney transplant is recommended. Dialysis artificially removes waste products and extra fluid from your blood when your kidneys can no longer do this. A kidney transplant involves surgically placing a healthy kidney from a donor into your body. The patient will need to take medications for the rest of his/her life to keep the body from rejecting the new organ. For some who choose not to have dialysis or a kidney transplant, a third option is to treat kidney failure with conservative measures. There has been recent development of a disease-detecting breathalyzer that can potentially identify 17 different diseases. “One of the major challenges in the modern era of disease diagnosis is how we can detect the disease when we are still feeling healthy,” says Hossam Haick of the Technion-Israel Institute of Technology. This device is capable of catching a disease in the early stages and may even be able to predict people that are at high risk for certain conditions. Researchers identified more than 100 other chemical compounds exhaled in each breath, 13 of which were associated with certain diseases.

BREAKTHROUGH RESEARCH

Researchers at the University of Washington Health Sciences/Medicine are creating and manipulating mini-kidney organoids that contain a realistic micro-anatomy that tracks the early stages of polycystic kidney disease (PKD). The organoids are grown from human stem cells. By substituting certain physical components in the organoid environment, cyst formation can be increased or decreased. The team found that PKD mini-kidneys grown in free-floating conditions formed hollow cysts that were very large. These cysts could easily be seen. In contrast, PKD mini-kidneys attached to plastic dishes stayed small. According to Nelly Cruz, research scientist, other manipulations to the organoid affects the progression of the disease. “We’ve discovered that polycystin proteins, which are causing the disease, are sensitive to their micro-environment. Therefore, if we can change the way they interact or what they are experiencing on the outside of the cell, we might actually be able to change the course of the disease.”

PKD Life

From Auburn Journal

Auburn resident gets award for giving back

After receiving a kidney transplant 15 years ago, one Auburn resident was chosen for a national award. 

Valen Keefer was chosen for the Bounce Back Give Back award from the Chris Klug Foundation, an award for people who live exceptional lives post transplant. 

The awards recognize two transplant recipients who exhibit an exceptional post-transplant quality of life, whether it is a career accomplishment, participation in a sport or hobby, or simply leading a fulfilling life with family and loved ones. 

“There is something very touching and serendipitous to all of this,” Keefer said. “I was just diagnosed with a rare autoimmune disease — primary sclerosing cholangitis (PSC). This disease, in which there is no treatment or cure, is the same disease that Chris Klug has that led to him needing a liver transplant and will ultimately lead to me needing a liver transplant, too. I was diagnosed with PSC after being selected for this award. The opportunity to meet Chris could not have come at a better time in my life.”

More than 65 nominations representing individuals from 24 states were received for this year’s awards. A team of CKF reviewers selected the two award winners. The two honorees and one guest each will enjoy an all-expense-paid trip to Aspen for the award ceremony on Dec. 8. 

Keefer has demonstrated a commitment to spreading the word about polycystic kidney disease (PKD) and advocating for organ transplantation, while honoring her donor. 

After being diagnosed with PKD at age 10, Keefer battled serious health complications until receiving a lifesaving kidney transplant at age 19. Since that time, she has dedicated her life’s work to being an ambassador for the cause. 

As a blog writer for the PKD Foundation Keefer has published more than 210 articles. She is a founding committee member of the Sacramento chapter of the PKD Foundation, Corks for a Cure event and has spoken at more than 90 different gatherings, reaching thousands of people. Awarded the 2012 Outstanding Media Ambassador for Sierra Donor Services, Keefer’s efforts include an extensive list of volunteer and professional accomplishments including being the subject of an award-winning biography and selected as one of the 12 Most Inspiring Women of “20 Million in 2012” by Donate Life America. 

“I believe we can always find the good in life and I hope you’ll help me spread my message of positivity, this award announcement, and also the beauty of the gift of life with your readers,” Keefer said. “Despite all of the health challenges I face, I continue to bounce back and give back through it all. “

10 Month Old Girl with PKD Needs Kidney; PKD Research: Aquaporin-11, Social Media Reconnects Kidney Sisters

Gift of Life

From WNEM-TV, CBS Affiliate, as reported from CNN

10-month-old Michigan girl born with rare kidney disease waits for transplant

A Michigan couple is counting their blessings this holiday season as they prepare for their daughter's first Christmas, and they're hopeful their little girl will soon receive a life-saving kidney transplant.

The moment a mother meets her child is unforgettable.

"It's just indescribable how much love and how much pain you feel when she feels pain,” said mother Emily Payne.

Payne waited six days to hold her baby girl for the first time.

"They really pushed for us to be able to hold her that day because they knew she was going to surgery and they didn't know if she would make it through that,” Payne said.

Born with autosomal recessive polycystic kidney disease (ARPKD), Rilynn Rose had both of her kidneys removed when she was just a week old.

"So many people told us she wouldn't survive and she's just really overcome everything. She's just really known as a miracle child,” Payne said.

Now 10 months old, this miracle baby is hooked up to a dialysis machine 12 hours a day.

"And then this one is her catheter for dialysis right here,” Payne said.

With each dialysis treatment, Rilynn runs the risk of an infection.

"You think you're safe and then all of the sudden you're not,” Payne said.

Rilynn is about two months and two pounds shy of being eligible for a kidney transplant.

"She's got a whole life ahead of her and she's already going through a lot more than I ever have,” said Zach Payne, Rilynn’s dad.

The emotional and financial toll is a struggle, though.

To become her daughter's full-time nurse, Emily quit her job at the Secretary of State's Office, where people decide whether to be an organ donor.

"I just wish I could go back and share her story and share that we could give her such a better life if you could donate,” Payne said.

One checked box could save Rilynn's life.

The Payne family has partnered with the Children’s Organ Transplant Association to help raise money for the life-saving transplant. >>Click here to donate<<




From Stanford Medicine, Scope Blog

Former co-workers reconnect via social media and become ‘kidney sisters’

Robbie Turner was only 28 years old when she was diagnosed with polycystic kidney disease — a genetic disorder that causes clumps of cysts to form in the kidneys, reducing their function over time. She knew she’d need a kidney transplant one day, and for many years, Turner and her husband thought he would be her kidney donor as he’d been approved as a perfect candidate.

Then Turner’s husband was diagnosed with cancer, and suddenly the couple was grappling with a cancer diagnosis and the need to identify a new kidney donor. Turner had kept her health condition private for years, but now that she needed to find a kidney donor fast, she broke her silence and turned to social media. A recent Stanford Health Care blog explains:

[A co-worker] created a Facebook page, ‘A Kidney for Robbie Turner,’ and uploaded videos of Turner telling her story. By casting her net beyond the people in her immediate social circle, Turner had 12 individuals come forward to be donors. One was a former co-worker, Nona Reid, who still lived in the Dallas area. She and Turner had lost touch for more than 15 years, but had recently reconnected via Facebook.

“I was the number one match, but the only one who lived out of state,” Reid said. She flew to California for testing and evaluation and was approved as a kidney donor for Turner.

On March 22, Turner and Reid were taken into surgery. Marc Melcher, MD, a Stanford Health Care transplant surgeon, performed both of their kidney surgeries. By the end of the day, Turner had a new, healthy kidney.

“I am extremely blessed to have Nona as a friend and I’m grateful and awed by her gift of life for me,” Turner said after the surgery. “She is my ‘kidney sister.’ I will take the best care of this kidney as if I was taking care of her.”

PKD Research

From ScienceDirect
Proteomic analysis of AQP11-null kidney: Proximal tubular type polycystic kidney disease

Abstract

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by the mutation of polycystins (PC-1 or PC-2), in which cysts start from the collecting duct to extend to all nephron segments with eventual end stage renal failure. The cyst development is attenuated by a vasopressin V2 receptor antagonist tolvaptan which, however, will not affect proximal tubule cysts devoid of V2 receptor. Aquaporin-11 (AQP11) is expressed selectively in the proximal tubule of the kidney and AQP11-null kidneys have a disruptive PC-1 trafficking to the plasma membrane to develop polycystic kidneys. Here, we analyzed AQP11-null kidneys at the beginning of cyst formation by quantitative proteomic analysis using Tandem Mass Tag (TMT). Among ~ 1200 identified proteins, 124 proteins were differently expressed by > 1.5 or < 0.8 fold change. A pancreatic stone inhibitor or a growth factor, lithostathine-1 (Reg1) was most enhanced by 5 folds which was confirmed by western blot, while mitochondria-related proteins were downregulated. The identified proteins will be new target molecules for the treatment of proximal tubular cysts and helpful to explore the functional roles of AQP11 in the kidney.

1. Introduction

Human Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by the mutation of polycystin-1 (PC-1) or polycystin-2 (PC-2) [1–3]. Cysts originate from the collecting duct in PC-1 null mice with defective cAMP signaling [1], which are marginally attenuated by a V2 receptor antagonist, tolvaptan [4]. Since V2 receptor is absent in the proximal tubule, tolvaptan will not affect the growth of proximal tubular cysts. Moreover, the mechanism for cyst development in the proximal tubule may not be same as in the collecting duct. The therapy against proximal tubular cysts will improve the suboptimal efficiency of tolvaptan therapy for ADPKD [4].

Aquaporin-11 (AQP11) is a new member of aquaporin family which is expressed at the membrane of intracellular organelles such as the endoplasmic reticulum (ER) [5–8]. Currently, the function of AQP11 is not clear even as a water channel due to its unusual location in the cell. However, AQP11-null mice revealed a striking phenotype of intracellular vacuole formation in the proximal tubule at one week old [5,9] indicating its critical role in the proximal tubule development. Surprisingly, these cells subsequently turn to cystic epithelia to develop polycystic kidney disease (PKD) at three week old and death at one month old [5]. The mechanism for the development of PKD in AQP11-null mice may not be related to its water channel function.

Our recent study on AQP11-null mice revealed a trafficking defect of PC-1 to the plasma membrane due to its abnormal glycosylation at the ER [10] possibly induced by abnormal environment of the ER with defective water and/or solutes transports. Irrespective of its mechanism, AQP11-null mice will be a good model for ADPKD affecting the proximal tubule selectively with intact collecting ducts, which will be useful to examine the proximal tubular cyst formation in ADPKD. As is the case with conditional knock-out mice of PC-1 [11], the effect of AQP11 deletion is also developmentally dependent as cysts were not observed with the disruption of AQP11 at ten days after birth [9]. Furthermore, these cysts may represent a very early stage of the cyst formation as they are in fact not cysts but dilated proximal tubules [9].

To expand our previous microarray studies [12], we employed a proteomic approach in this study to compare the differentially expressed proteins in AQP11-null kidney to identify key molecules for the development of proximal tubule specific cysts and functional role of AQP11 in the kidney. [Read more]