PKD Research: Helping Kids; Exploring Lixivapta as a PKD Treatment

PKD Research

From Medical Xpress

New answers for kids with inherited kidney disease

A cross section of a cystic kidney. Credit: Maria Rondon Galeano, The University of Queensland

A new gene behind a rare form of inherited childhood kidney disease has been identified by a global research team.

University of Queensland researchers were part of the team that made the discovery that will improve genetic testing and could provide clues for future treatments for autosomal recessive polycystic kidney disease (ARPKD).

UQ Institute for Molecular Bioscience researcher Associate Professor Carol Wicking, a lead author of the study, said it had previously been difficult to determine the underlying cause of all cases of ARPKD.

"It was thought that errors in a gene called PKHD1 were solely to blame for this rare form of kidney disease," Associate Professor Wicking said.

"But there was always a subset of patients who appeared to have the disease, even though they possessed a normal version of that gene.

"The aim of this study was to find other genetic culprits that could be responsible for this devastating condition."

ARPKD causes enlarged kidneys, liver problems and high blood pressure, and often leads to renal failure in the 70 per cent of patients who survive the first weeks of life.

Using a technique called whole exome sequencing to analyse all of a patient's genes simultaneously, researchers in Germany and the US found errors in a gene called DZIP1L in four families with ARPKD.

Associate Professor Wicking and colleagues in Australia, Singapore and Germany used laboratory-based models to confirm that errors in this gene did indeed cause kidney defects, and began to explore and understand why.

"The gene DZIP1L appears to be related to the function of cilia, which are small antenna-like extensions that project from almost all cells of the body, including those in the kidney, and play an important role in controlling vital cellular functions," Associate Professor Wicking said.

"This gene makes a protein that acts at the base of the cilium, which, when faulty, causes a domino effect that leads to problems in cilia and, in turn, a malfunctioning kidney.

"ARPKD has a more complex cause than originally thought, and our work to understand this rare disease may eventually help us to better manage both rare and more common forms of polycystic kidney disease."

Many patients with a rare disease wait years for a genetic diagnosis and often endure multiple misdiagnoses.

Rare Voices Australia Executive Director Nicole Millis said this exciting discovery provided much-needed answers for patients.

"These findings highlight how new genomic technologies are helping to find answers for patients with rare diseases, giving them more certainty about their condition.

"Having a genetic diagnosis also gives patients and their families a chance to connect with other people living with a similar rare disease and build vital support networks," Ms Millis said.

The research is published in Nature Genetics.

From Business Wire

Palladio Biosciences Formed to Develop Transformative Medicines for Orphan Diseases of the Kidney

Palladio Biosciences, Inc. (Palladio) http://palladiobio.com/, a private biopharmaceutical company founded to develop medicines that make a meaningful impact on the lives of patients with orphan diseases of the kidney, announced today that it has acquired global rights to lixivaptan, a selective vasopressin V2 receptor antagonist, from Chiesi USA, Inc. Palladio will develop lixivaptan for Polycystic Kidney Disease (PKD), an orphan kidney disease for which there are no drug treatments approved in the United States.

“We are very pleased to be developing lixivaptan as our first product,” said Lorenzo Pellegrini, Ph.D., Founder and Chief Executive Officer of Palladio. “We believe that lixivaptan may be able to delay the progression of PKD, thus decreasing the need for dialysis and/or kidney transplant and potentially extending the lives of patients with PKD.”

In conjunction with the lixivaptan acquisition, Palladio closed on a Series A venture round led by Medicxi, one of Europe’s largest dedicated life sciences venture capital firms. Michele Ollier, MD, Partner and co-founder of Medicxi, and Jonathan Edwards, Ph.D. principal at Medicxi, have joined the Board of Directors of Palladio Biosciences.

"We are excited to be supporting Palladio Biosciences," said Michele Ollier, MD. "Lixivaptan represents a late stage, de-risked orphan development program in an area of high unmet need with no treatment approved in the US."

"We are pleased to have completed this transaction with Palladio Biosciences in an effort to bring this important medicine to PKD patients worldwide," stated Ken McBean, President and CEO at Chiesi USA, Inc. "As a company focused on developing treatments to address important unmet medical needs, we are glad that Palladio is committed to the development of this product."

About Lixivaptan:

Lixivaptan is a selective vasopressin V2 receptor antagonist. This mechanism of action has clinical proof of concept to delay the progression of the autosomal dominant form of PKD. Lixivaptan was previously administered to more than 1,600 subjects across 36 clinical studies as part of a prior clinical development program for the treatment of hyponatremia. Palladio expects to leverage this extensive data package and the learnings from recent PKD drug development activities to advance lixivaptan for PKD.

About Polycystic Kidney Disease (PKD) - Key Facts and Figures:

PKD is an inherited genetic disease that affects thousands of people in the United States and millions globally. The disease is characterized by uncontrolled growth of fluid-filled cysts in the kidney, which can each grow to be as large as a football. The continued enlargement of cysts and replacement of normal kidney tissue causes irreversible loss of renal function. In the United States, approximately 2,500 new people with PKD require dialysis or a kidney transplant every year, making PKD the 4th leading cause of kidney failure. There is no cure for PKD.

PKD Gift of Life: Army Buddies, Learn More About For-Profit Kidney Dialysis Industry

Gift of Life

From Military Times, By: Rachael Kalinyak

Two old Army buddies, one kidney, and a life saved

Last October, Kai Johns, an Army veteran and engineer for Sprint, was told by doctors that both of his kidneys had failed and he needed an immediate transplant. After seeing a post on Facebook, an old friend of his from the Army, Robert Harmon, offered to help, reports Fox 5 DC.

Robert Harmon sits in Medstar Georgetown University Hospital before the surgery.

“It was a Facebook post. It said, a kidney for Kai,” Harmon told Fox 5 DC. “I Facebook messaged [his wife], and ask her, what could I do to start getting tested.”

Johns and Harmon have known each other for 22 years. The two served in the Army as paratroopers at Fort Bragg, North Carolina, but had not seen each other in over 15 years.

Kai Johns awaits the kidney transplant surgery from Robert Harmon that will save his life.

“We were paratroopers in the Army together and that brotherhood runs deep,” Harmon said. Harmon, 42, is a telecommunication operations chief at the 3rd Infantry Division Sustainment Brigade at Fort Stewart, Georgia.

Kai Johns hugs his wife before surgery at Medstar Georgetown University Hospital.

Johns was diagnosed with polycystic kidney disease, which affects around 600,000 people in the United States alone. After getting tested at the MedStar Georgetown Transplant Institute in Washington, DC, he learned that he would get the kidney he needed. And on April 27, Harmon donated a kidney to Johns. The three-hour surgery was performed by Dr. Jennifer Verbesey at Medstar Georgetown University Hospital.

Surgery for the kidney transplant is underway.

“For someone to step up and just save your life — you can’t come up with a word for it,” Johns told Fox 5 DC.

To cover the costs of the procedure, the family has been holding several fundraisers and started a website for donations. Currently they have raised $30,870 of their $75,000 goal. To help the Johns’ family, click here.

Kidney Dialysis

From Washington Post, By Amy B Wang

John Oliver on kidney dialysis, Taco Bell and death

During the three years that HBO's “Last Week Tonight” has aired, host John Oliver has skewered one political absurdity after another.

But the late-night comedian has also used his platform to delve into more complicated issues — the debate over net neutrality, for example — often with comical and significant results.

On Sunday, Oliver once again turned his attention to a topic that he admitted would risk prompting viewers to “push the button on your TV remote marked 'Dear God Literally Anything Else.'”

Kidney dialysis.

Oliver explained dialysis as a process in which a person is hooked up to a machine that removes blood out of the body, cleans it, then returns it to circulation. “Think of it as a Brita pitcher for your blood,” he said.

And he urged people to learn about the for-profit dialysis industry, however boring it may seem, because an increasing number of people in the United States suffer from kidney disease and rely on the “exhausting process” of dialysis to stay alive.

Kidney disease is the ninth leading cause of death in the United States, according to the Centers for Disease Control and Prevention. Oliver also cited a 2010 ProPublica investigation that revealed the United States “continues to have one of the industrialized world's highest mortality rates for dialysis care” despite spending more on it than other nations, by some accounts.

“So we're spending the most to essentially get the least,” Oliver said. “We're basically paying for a fully loaded Lamborghini and receiving a drunk donkey on roller skates.”

Oliver recounted the history of how the country's for-profit dialysis industry came to be — the result, he said, of good intentions mixed with “bad incentives, poor oversight and profiteering.”

[People with autism, intellectual disabilities fight bias in transplants]

In 1972, President Richard Nixon signed a bill into law saying the government would pay for dialysis for anyone who needed it.

“Essentially we have universal health care in this country, for one organ in your body,” Oliver said. “It's like your kidneys, and only your kidneys, are Canadian.”

At the time, only about 10,000 patients needed coverage, but over the past four decades, the rise of diabetes and high blood pressure has led to nearly half a million people requiring dialysis, Oliver said. The cost of covering dialysis now accounts for 1 percent of the federal budget, he added.

As a result, a network of outpatient dialysis clinics sprung up around the country to accommodate these patients' needs. Two large companies own 70 percent of these clinics, Oliver noted: Fresenius Medical Care and DaVita.

Despite “significant issues with both of them,” Oliver said he would focus on DaVita, a $13 billion company based in Denver.

He aired clips showing DaVita chief executive Kent Thiry riding into company meetings on a horse, dressed as a musketeer, referring to himself as a “mayor” and quoting from “The Man in the Iron Mask.”

Because federal guidelines do not require doctors to be on site at for-profit dialysis clinics, DaVita patients often reported feeling rushed, with employees allegedly cutting corners for the sake of speed.

[What makes someone donate a kidney to a stranger?]

Megallan Handford, a former DaVita nurse who claims he was fired for trying to unionize its employees, told Oliver the company's focus “was all about numbers,” sometimes at the expense of patient safety.

“When I was working at DaVita, the priorities for transitioning patients was to get them on dialysis and get the next patient on as soon as possible,” Handford told Oliver. “You would have sometimes 15, maybe 25 minutes to get that next patient on the machine, so you were not properly disinfecting.”

Oliver ran through other complaints that have been made against DaVita, including questionable doctor referrals and accusations that the company purposely wasted drugs to be able to bill the federal government more.

“If it's beginning to feel like DaVita is being run like a volume business …” Oliver started, before cutting to a clip that showed Thiry comparing his management of DaVita to that of Taco Bell. (Before the show ended, Oliver would apologize — to Taco Bell.)

Toward the end of his segment, Oliver emphasized that problems with the for-profit dialysis industry were not limited to DaVita.

He also called for better government oversight, as well as improved incentives for kidney transplants and health care “to keep out of dialysis in the first place.”

Oliver also praised those who were willing to donate one of their two kidneys while still alive.

PKD Tolvaptan Treatment Plan in Canada, PKD Life: Six Year Old in Grand Rapids, Gift of Life: Glasgow A Friend in Need, Learning from ZebraFish

PKD Treatment in Canada

From Toronto Metro, By: Lucie Edwardson
'My future is a little brighter': Patient happy with new kidney disease treatment plan

Britney Ambrose, who was diagnosed with PKD when she was 17, said prior to the new drug and treatment plan there was very little that could be done for people with PKD.

A new treatment plan for people suffering from polycystic kidney disease (PKD) is making life more bearable and slowing down the effects of the disease according to the Kidney Foundation.

Polycystic kidney disease is the most common form of inherited kidney disease. PKD causes progressive cysts on the kidneys, enlarging them slowly (sometimes to the size of a football), leading the patient to need dialysis until they must have their kidneys removed and undergo a transplant surgery.

Britney Ambrose, a 32-year-old archeologist, was diagnosed with PKD when she was 17, and said thanks to the new drug and a treatment plan developed by surveying kidney specialists and patients, her outlook on PKD has changed.

“My future looks a little brighter than it did before,” she said.

The drug, Tolvaptan (commonly referred to as Jinarc), prevents cysts from growing quickly by blocking receptors that helps reabsorb water, ultimately protecting kidney function.

The newly developed treatment plan—which had a Canada-wide consultation with patients and specialists— focuses on things like genetic testing, diagnostic imaging, predicting risk and drug treatment options.

This is a “big jump forward” for those living PKD, according to Dr. Louis Girard who co-authored the paper “Canadian Expert Consensus” detailing the treatment plan.

“Before we didn’t have a lot to offer for patients with PKD,” he said. “Now, for a proportion of them we have opportunity to try and delay the progression of kidney disease.”

Girard, who's also a clinical associate professor at the University of Calgary, said the new drug was an opportunity for doctors to look at the disease and see how they could provide better care.

“We weren’t doing a good service for our patients before and now we’ve published these consensus recommendations, and the new treatment is a small part of it but it made us look at how we could improve our care for our patients,” he said.

The doctor said the main message is that kidney specialists need to see those suffering from the disease so that they can apply what they’ve learned, and continue to understand how to better support those with PKD.

Girard said there are roughly 60,000 in Canada who suffer from PKD, and that so far the Tolvaptan and treatment plan has been made available to 700 people in the country, 20 of whom are in Calgary and 10 of which are Girard’s patients.

To read the full paper and recommendations for care click here.

Living with PKD

From Fox 17, West Michigan

Entire family fighting rare form of kidney disease
GRAND RAPIDS, Mich. - Imagine telling a child they can`t have chocolate or play certain sports because it could harm them. That's the life one West Michigan girl after she was born with a rare type of kidney disease - and shes not the only in her family diagnosed with it.

6-year-old Lorelai is a kindergartner who was born with Polycystic kidney disease which limits her on certain activities she can play and even what she eats like chocolate, bananas and oranges.

But she isn't the only one who suffers from this. Her brother Shane, her mother Danielle and even her siblings and father have kidney disease, too just not as severe.

"We all have the same disease we all worry about how it's going to affect us and we all try to share knowledge as we gain it," said Danielle Mier, Lorelai's mother.

Lorelai's kidney function is currently at 30 percent and as a result she takes six different medications twice a day on top of having has to check her blood pressure three times a day.

"It (the blood pressure cuff) just gives you a little of a hug (she laughs)," Lorelai said.

Plus she gets frequent blood draws, something her mom says is making her one strong fighter. Even more important, the family knows the importance of staying active.

"It helps your kidneys to keep working," Lorelai said.

That's why every year the Mier family walks in the Grand Rapids Kidney Walk to help raise awareness and money for research along with helping educate others on how to prevent it.

"For her to be around other people that have the same issues and are fighting the same battles every day it really is encouraging to her and it's encouraging to us as parents and her family to know there's other people there's other moms out there that are fighting for their kids," Mier said.

From Evening Times, Glasgow, Scotland

Friends for 45 years and now we share the same kidneys



TWO childhood friends who say they as close as sisters have cemented their 45-year bond with a kidney swap.

Rodelle Kirk did not hesitate after her friend Maureen Graham's husband David put out a plea for help to find a donor on Facebook.

Maureen, 59, had waited nine years for her first kidney transplant, which failed a few years ago, and Rodelle, also 59, did not want her to face the same ordeal.

Miraculously, Rodelle, who is known as Del, was a perfect match for her friend even though only one in four of the population would have been suitable because she had developed very high levels of antibodies.

The emotionally charged moment the friends see each other for the first time after the surgery is captured on the final episode of the BBC series, Glasgow's Superhospital.

Del said: "We've been friends through thick and thin and for me to able to do this for Mo, well it's confirmation of how dearly I love her."

Maureen, who is from Balloch and is retired, has suffered from kidney disease for 29 years after being diagnosed with polycystic kidney disease at the age of 19.

She had her first kidney transplant at the age of 40, which lasted eight years before it began to fail and has spent 11 years in total on dialysis, latterly at her home.

Maureen said: "Del's like a sister to me. We've always been like that.

"I try not to get emotional about it but sometimes the enormity of it washes over me. There are no words. She's my hero, I cannot be more grateful.

"What you are doing is existing (on dialysis). It's not a life.

"I've not been this well for 20 years. I'd forgotten how this feels.

"Golf is my passion and I'm back playing."

Del, who lives in Dumfries, is now fully recovered after the surgery in November last year and is looking forward to celebrating with Maureen when she turns 60 on May 17.

She said: "For me to be a match was just incredible.

"If anyone was going to do it, I'd rather it was me.

"Maureen didn't want to put me through this. Her husband Dave put something on Facebook for her friends explaining Mo's situation and if whether anyone would consider putting themselves forward.

"That's what spurred me on. It was something I always hoped I would be able to do.

"This is the start of a new life for her."

The renal unit at the QEUH cares for more than 600 patients every year, who are on kidney dialysis.

With more than 5000 people on the UK transplant list and only 36% signed up to donate, patients can face considerable waits. Maureen has signed a petition calling for the Scottish Government to switch to an opt-out transplant system, which the Evening Times is campaigning for.

Del was warned by transplant surgeon David Kingsmore about the risks of donating a kidney and told that her system will take a "hard knock."

He said: "I've got a lot of admiration for people who do this. [Read more]

PKD Research

From The Lawrentian, Lawrence University

Recent Advances in Biology: Comparative Analysis

On Monday, May 8, University of Wisconsin-Eau Claire Associate Professor of Biology Jamie Lyman Gingerich presented her research at Lawrence University. The presentation was titled, “Zebrafish, C. elegans and Human Polycystic Kidney Disease: Identifying Potential Disease Biomarkers through Comparative Analysis.” It was held in Steitz Hall Room 102 from 3:10 to 4:10 p.m.

Dr. Lyman Gingerich earned her Ph.D. in genetics from the University of Wisconsin-Madison. She earned her undergraduate degree in biology at Kalamazoo College—a private, undergraduate institution similar in size to Lawrence in Kalamazoo, Mich. At Kalamazoo, Dr. Lyman Gingerich said, “I learned to ask questions, think broadly and develop a diverse skill set.” She went on to say, “Working in science requires so much more than simply having ‘good hands’ at the bench: you have to be able to communicate well, work with others who may have different perspectives or approaches and apply knowledge from diverse fields. One challenge for me was learning about lab culture and the different roles in a research lab. Because we had only undergraduates at Kalamazoo College, the opportunity to do research at an R1 university and interact with graduate students and post-docs before going to graduate school, was a key part of my success when I did pursue my doctorate.”

Polycystic kidney disease has symptoms that include the development of cysts in the kidneys and high blood pressure. It is considered a genetic disease as specific versions of inherited genes have been linked to this disease. Genes encode proteins that are needed for cellular functions. The versions of the genes in individuals who develop polycystic kidney disease encode altered proteins that affect these cellular functions, leading to the health problems associated with the disease.

Dr. Lyman Gingerich’s research focuses on how the versions of genes associated with polycystic kidney disease affect the function of cilia—a cell structure crucial to vision, heart, and kidney function in humans. Her lab uses nematode worms known as C. elegans, and fish known as zebrafish to identify these genes and study their effects.

Dr. Lyman Gingerich became interested in researching polycystic kidney disease after working with a lab studying polycystic kidney disease using C. elegans. When asked what she likes best about working with the nematodes and fish, Dr. Lyman Gingerich said, “I think that the variety of scientific questions that can be explored with C. elegans and zebrafish is amazing. I have to admit—I am still fascinated by watching a zebrafish embryo develop from a single cell into a complex organism.” Senior Brenna Ori, majoring in biology and history, commented that she was interested in the use of two different model organisms in Dr. Lyman Gingerich’s research on polycystic kidney disease.

One of Dr. Lyman Gingerich’s teaching interests is “inquiry-driven science education.” She said, “I enjoy the opportunity to mentor the next generation of scientists.” As an assistant professor of Biology at the University of Wisconsin-Eau Claire, Dr. Lyman Gingerich works with undergraduate students in her research lab. She said, “It is rewarding to see my students succeed, whether that be finding something novel in the lab, telling the story of their science at research conferences, or pursuing their passion after graduation (even when that passion isn’t science).” She continued, “Sometimes, it is hard to let students graduate—when students open new avenues for our research, I wish that they could stay in the lab.”

Ori commented that current science research presentations given at Lawrence help students understand “our own research as well as introduc[ing] us to new ideas and techniques we may not otherwise learn about.” Dr. Lyman Gingerich also commented on her own experience in attending research seminars as an undergraduate. She said that a speaker at a research seminar “sparked questions in my mind that started me on my path to becoming a trained scientist. It would be incredible if I could pay it forward.”

Wearable Artificial Kidney Update, PKD Gift of Life: Greensboro, PKD Research: Fruit Fly Genome Secrets, PKD Life: Buffalo, Wyoming

PKD Research

From Nephrology News

Creating a wearable artificial kidney: A difficult but necessary goal

“Dialysis is a promise unfulfilled,” said Jonathan Himmelfarb, director of the Kidney Research Institute and Joseph W. Eschbach, MD, Endowed Chair in Kidney Research at the University of Washington School of Medicine.

What is the promise? For that answer Himmelfarb, during his session at the National Kidney Foundation Spring Clinical Meetings, referred to quotes from the pioneers of hemodialysis, Willem Kolf and Belding Scribner.

“If we are going to keep patients alive by artificial means, we then incur the responsibility to see that it is a good life and an enjoyable life,” Kolff said in 1968.

“If the treatment of chronic uremia cannot fully rehabilitate the patient, the treatment is inadequate,” Scribner said in 1963.

Dialysis keeps people alive, but it doesn’t restore health, Himmelfarb said. And it doesn’t fully rehabilitate.

Obstacles to creating a better treatment option for ESRD patients

To provide a better treatment option for end-stage renal disease patients, you first have to know what a patient wants from treatment, Himmelfarb said. Our current understanding of what patients want is incomplete.

He referred to data from the Standardized Outcomes in Nephrology­­–Hemodialysis (SONG-HD) Initiative for a glimpse of what is important to hemodialysis patients. According to a survey, the most important outcomes for patients were fatigue, ability to travel, free time away from dialysis, impact on family, and ability to work.

Simply put, ESRD patients want to live their lives as unrestricted as possible.

Being confined to a treatment schedule that hinders their ability to visit out-of-state family and take vacations, or being too washed out and tired to even take a trip, or perform daily tasks, severely diminishes their quality of life. According to the SONG data, and other studies, quality of life is more important to many patients than mortality.

There are also physiological obstacles to improving treatment. Our understanding of uremia is incomplete, Himmelfarb said. And our measure of dialysis adequacy is inadequate.

Developing a wearable artificial kidney

The logical progression of dialysis treatment improvements, according to Himmelfarb, would be portable (think a smaller, lighter version of the NxStage System One), wearable, and implantable.

And through the Kidney Research Institute and the University of Washington, Himmelfarb is working on the wearable.

In 2015, they tested a device developed by Victor Gura, MD, FASN, from the David Geffen School of Medicine at UCLA, on seven hemodialysis patients.

Himmelfarb said they felt good about the trial. They learned a lot, the patients were excited about the freedom the device gave them, and outcomes were good. [Read more]

From Science Daily

Biochemical pathways of kidney disease revealed

Fruit flies used to further our understanding of cysts, cancer

According to PKD International, 12.5 million people are affected by polycystic kidney disease. There is no known cure. But that may one day change, thanks in part to new research by a Concordia biology researcher.


In a study, recently published in PLOS Genetics, Chiara Gamberi and her coauthors developed an innovative fruit fly-based model of the types of harmful cysts that can form on kidneys. The model has enormous potential for assisting the study of how cells proliferate in polycystic kidney disease and cancer.

But what do fruit flies have to do with it?

"The human and fly genomes show a surprising level of similarity. In fact, gene relationships, or genetic pathways, are virtually identical between human beings and fruit flies," explains Gamberi, who is affiliate assistant professor of biology in Concordia's Faculty of Arts and Science.

"Most human organs have fly counterparts. That's a great advantage we can leverage to study the functions of disease-associated genes, and also to identify possible methods of combating those diseases."

Kidneys are particularly challenging to investigate because of the difficulties of isolating the nephrons -- tiny tubes in the kidney that filter substances from body fluids. The fruit fly equivalent, small though it is, acts as an effective stand-in, with the added advantage of allowing researchers to rapidly assess genetic and chemical influences because of the fruit fly's short lifespan.

Gamberi and her coauthors reported the first example of renal cysts in the fruit fly species Drosophila melanogaster.

Through an interdisciplinary approach that included genetic analyses, molecular biology, micro-dissection and drug screening, they have begun deciphering the biochemical pathways through which kidney cysts form. They have also established screening methods to identify drug candidates. The results will help medical professionals identify new treatment targets and methods for certain kidney diseases and cancers.

"Our findings both validate and prompt further use of this first-in-kind fly model of kidney cyst formation in order to pinpoint the molecular and cellular mechanisms at work," says Gamberi.

"I hope that our studies will help define the precise cellular and molecular defects underlying kidney cyst formation," she adds.

"This will also give greater insight into diseases like cancer, in which certain types of cells proliferate. Ultimately, this will help to select targets and drugs for therapeutic interventions aimed at reducing cyst formation and restoring nephron function."

Understanding PKD

From The Lancet, by Albert C M Ong

Making sense of polycystic kidney disease

The term polycystic kidneys was first coined by Felix Lejars in 1888 to describe the clinical signs of bulky kidneys following earlier anatomical and pathological descriptions. Polycystic kidney disease (PKD) is now known to encompass not only the autosomal dominant form (ADPKD) but also includes many rare forms. Since the work of Lejars and his contemporaries, the pathogenesis of PKD has continued to provoke much debate and study.1 [Read more]




Gift of Life

From News & Record, Greensboro, By Tina Firesheets

Lives intertwined for transplant recipient, donor family

Mona O’Bryant and Terri Harris have been friends since 1988.

Harris began working as a clerk at Smith Moore Leatherwood law firm three years after O’Bryant joined the firm.

Their bond strengthened when both became pregnant with their sons in 1996. The working mothers even shared a nanny when their sons were young. O’Bryant’s son, James, and Harris’ son, Mitchell, practically grew up like brothers. They remain friends today.


But the bond between O’Bryant and the Harrises is even stronger now. O’Bryant has developed a lifelong connection to Terri’s husband, George. Literally. She has one of his kidneys.

“They have been family for a long time,” O’Bryant says. “Terri and George have always supported me, and it did not surprise me when George made the offer.”

Harris is mostly recovered from the transplant, which was completed Jan. 10. O’Bryant’s recovery has taken longer, but she has more energy and recently returned to the law firm’s office.

O’Bryant is one of four sisters — all of whom have received a diagnosis of polycystic kidney disease, or PKD. The disease causes cysts to form and grow on the kidneys, eventually impeding kidney function. There’s no cure for it, and the cysts never go away.

Their father, who also had PKD, had a kidney transplant in 1983. He has since died. PKD is an inherited disorder, so their children also have a 50 percent chance of having it. Because of this, most family members couldn’t be considered as kidney donors.

O’Bryant, who learned in the mid-1980s that she had PKD, began talking with her doctors about a kidney transplant in early 2016. They predicted that she could need a transplant in two to five years. But her creatinine levels escalated significantly in the following months.

Creatinine is a chemical waste molecule generated from muscle metabolism. It’s transported through the bloodstream to the kidneys, where it’s disposed of in the urine. High levels indicate poor kidney function. Those levels increased so much that by the end of the summer, O’Bryant began discussing dialysis treatment with her doctor.

Then Harris made his offer.

It can take years to find a match for people needing kidney transplants. Regionally (in the Carolinas, Virginia, Kentucky and Tennessee), 44.4 percent of donors were genetically related to the recipient, according to Betty Crandall, the administrative director of transplant services for Wake Forest Baptist Medical Center in Winston-Salem. Some people in need of transplants spread the word through social media.

Crandall says there are increasing numbers of donors and recipients who have met that way. Each year, a few people also decide to donate a kidney anonymously to anyone on the list, she says.

O’Bryant would rather not draw attention to herself and did not solicit donors, but Terri Harris generated an email campaign among their co-workers and friends.


Her husband jokes that he offered his kidney to O’Bryant because he didn’t think his would be selected.

“I was thinking lots of people would want to be tested (to be a donor),” he says. “I was thinking that I would lead the charge.”

Other people were interested, but the testing process for donors can be extensive. Living donors must be between the ages of 18 and 60 and in good health. They should not have had high blood pressure, diabetes, or kidney or heart disease. They also undergo phone interviews and a series of visits that include blood work, X-rays and meetings with various members of the living-donor team.

“They kept asking if we’d ever had a disagreement,” Harris recalls. “I finally asked, ‘Why do y’all keep asking me that?’ ”

It was to make sure that he wasn’t offering his kidney out of guilt or obligation.

Harris says he doesn’t consider his generosity anything out of the ordinary and even jokes that he did it because “I think (Mona) will put in a good word for me at the Pearly Gates.”

But something else also motivated this father of two:

“I gave Mona the kidney knowing that James needed his mother to be healthy and happy.”

PKD Life

From Buffalo Bulletin, Wyoming, by Jen Sieve-Hicks

Caught in a Catch-22

For 25 years, Dawn Crider of Buffalo lived with the knowledge that someday she would require kidney dialysis and maybe a kidney transplant. At age 20 she learned that she had inherited polycystic kidney disease – the same disease that would eventually cause the kidney failure that killed her mother and grandmother.

So last summer, when a routine blood test revealed that Dawn was in end-stage renal failure and had only had 3 percent kidney function, it was a shock, but not one she was unprepared for.

“I knew my all my life that I’d end up on dialysis,” Dawn said. “But it was surprising, because most people with 3 percent kidney function would be very sick and in the hospital, but I felt fine.”

Next came an extensive round of tests and exams, and two days before her 46th birthday, Dawn traveled to the Watt Dialysis Center in Sheridan to begin her first dialysis treatment. She now receives dialysis in Sheridan three times weekly for four hours a session.

“I call it doing my oil change,” she said. “They circulate the blood through a machine and it cleans the blood, and then they pump it back into me.”

She passes the time by reading. She tried to take up knitting to fill the hours, but with one arm tethered to a dialysis machine, knitting didn’t come easy.

Though she could be a candidate for a kidney transplant, she is not currently on the transplant list.

Dawn is caught in a medical insurance Catch-22. As a patient with end-stage renal failure, she automatically qualifies for Medicare. And she also purchased a private, secondary insurance plan to cover expenses not covered by Medicare.

Her dialysis treatments, which run about $200 a session, or $30,000 over the course of a year, are covered by a combination of payments from Medicare and her private plan.

But her secondary insurance doesn’t cover transplants and Medicare only covers 80 percent of transplant expenses. At approximately $150,000 for transplant surgery, Dawn’s out-of-pocket expenses would be $30,000. And then there’s the matter of expensive anti-rejection medication that Dawn would have to take for the rest of her life after transplant.

“When I first started (looking at insurance plans) it was hours and hours of trying to get everything situated,” she said. “There’s a lot of finagling to make sure it’s all covered, to get medications that are covered.”

Right now, she has two options, both of which she considers unattractive.

Moving out of state – Montana has secondary insurance options that cover kidney transplants. Or quit her job as an administrative assistant at the Buffalo Bulletin.

“If I quit, I could get disability and then Medicaid would kick in, and I understand some people have to go that route,” she said. “But I don’t want to quit my job. I like my job, and I can’t imagine not working.”

She is hopeful that any new health insurance bill that is passed would allow health insurance to be sold across state lines.

“I’m going to see how the whole insurance thing in Washington (D.C.) goes,” she said. “Opening up insurance across state lines would be ideal.”

But for now, Dawn waits and watches the dialysis machine pump her blood through a series of tubes and filters and back into her body.

“I’ve learned to rely on God – it’s a lot to take in,” she said. “I just look to God. That’s one thing I wouldn’t trade for anything. Without this, I wouldn’t have such a strong relationship with him.”