From PKD International.org, The Global Alliance for Polycystic Kidney Disease
What is Polycystic Kidney Disease (PKD)?
Polycystic Kidney Disease (PKD) is a range of inherited conditions that cause renal (kidney) failure, injury to other organs and sometimes result in premature death in children and adults. PKD is ’primarily characterised by the development of multiple micro and macroscopic cysts – sacs filled with fluid – throughout both kidneys and often, the liver.
There are 2 major forms of Polycystic Kidney Disease:
Autosomal Dominant PKD or ADPKD
Autosomal Recessive PKD or ARPKD
Both types of PKD occur from abnormalities or mutations in single genes inside human cells. Genes contain DNA, the ‘building blocks’ of life which contain instructions for making the proteins that are necessary for human development. When there is a genetic mutation, the proteins don’t work properly or are sometimes missed. In PKD, the genetic mutations affect the kidneys primarily, but also affect the development of the liver and other organs.
The genes are packed into 23 pairs of 46 chromosomes. One of each pair is inherited from each parent, along with any mutations.
PKD disorders are called ‘Autosomal’ because the mutations occur in one or more of the 22 chromosomal sets that are ‘non-sex’. (The 23rd pair are the XY chromosomes that determine gender.) PKD occurs equally in men and women with no gender bias.
ADPKD
ADPKD is the world’s most common inherited kidney disease, in which fluid-filled cysts develop, multiply and grow in both kidneys. Other organs, such as the liver and brain, may be affected.
Between 1 in 400 and 1 in 1000 people worldwide – about 12.5 million – have ADPKD. Over half of those affected will have kidney failure by the time they are 60 years old. Many will experience regular pain, disabiity and anxiety throughout life
ADPKD is caused by mutations in the PKD1 and PKD2 genes. It has a dominant pattern of inheritance which means that you only need an abnormal gene from one parent to cause ADPKD, even though the matching gene from the other parent is normal. The abnormal gene dominates.
Typically, ADPKD is inherited from a parent, but approximately 5-8% of cases are de novo’ or spontaneous mutations at conception. If you have ADPKD, there is a 1 in 2 (50 percent) likelihood that any children you have will inherit the disease. Each child’s risk is independent of other children. Children who do not inherit the abnormal gene will not develop or pass on the disease.
Read more about ADPKD.
ARPKD
ARPKD is a rare and severe disease which can result in early kidney and liver failure. It occurs in about one in every 20,000 live births.
Sadly, about one baby in three with ARPKD dies from breathing problems during the first four weeks after birth and some will die during pregnancy.
However, 8 to 9 in ten babies (80-90 per cent) who survive the first four weeks of life are still alive at five years old. Encouragingly, a good number of children now survive into adulthood and are able to live full and productive lives.
ARPKD is caused by a mutation in the gene PKHD1. It has a recessive pattern of inheritance which means that you have to inherit two copies of an abnormal gene, one from each parent to get ARPKD. If you inherit only one mutated gene, you will be a ‘carrier’ but not develop ARPKD. However, when two carriers with the same abnormal ARPKD gene conceive a child, there is a 1 in 4 (25%) likelihood of passing the abnormal copy to the child. ARPKD will then occur.
From PKD International.org, The Global Alliance for Polycystic Kidney Disease
Join us in Edinburgh on Saturday 4 October for the first-ever Conference in Scotland dedicated to PKD.
Hosted by Professor Neil Turner
Bringing patients, families and carers together with consultants, GPs, researchers and other PKD experts.
The aim is to educate, support and give hope to those living with or caring for someone with PKD.
PKD Gift of Life
From Fox 2 News, St. Louis, MO, BY TOM O'NEAL
CRYSTAL CITY, MO (KTVI)– We have followed the Derque family of Crystal City through a remarkable medical journey. The latest development is a giant step toward a normal life for the family. Both daughters needing organ transplants have received them.
We first introduced you to the Derque family about 2 1/2 years ago. At that time, 7-year-old Kate Derque and her 12-year-old sister, Abbi, both needed double organ transplants. A genetic disease called Polycystic Kidney Disease was destroying their kidneys and liver. Kate was getting dialysis three times a week and had just gone on the waiting list for a transplant. Abbi had been on the transplant list for 2 years and was getting monthly checkups. Abbi had had a recent scare with bleeding in the liver. Middle child, John, was healthy. Their mother, Kim refused to feel sorry for herself or let her children feel sorry for themselves. She was determined that they not be defined by their disease. Kim told me if she could wave a magic wand and make everyone healthy she would. But that was not what they had been given and they would make the best of it.
We did a follow-up report last August concerning a big change in the family’s situation. In May of 2013, Kate now 9, underwent a 10 hour surgery at Cardinal Glennon Children’s Medical Center to receive a new kidney and new liver. Things went well and Kate has had a good recovery.
But Abbi was still waiting for a similar transplant. Kate was transplanted first because she was higher on the list. At the time, Abbi told me she was excited for Kate but that all the waiting for the call to come was hard. She couldn`t really participate in sports and had to stay within three hours of the hospital in case that call would come.
Kim said it was hard to find words to express her gratitude to the donor family that gave Kate a new lease on life. She does not know the identity of the donor. They would take it one day at a time to wait for a transplant that would also give Abbi a chance at a normal life.
That day was 10 months later in March of this year. The family received the call that organs were available for Abbi. She also underwent a successful 10-hour surgery to implant a new liver and kidney. [Read more]
Black Market Kidneys
From Comcast SportsNet Chicago, NBC 5 Chicago Investigates
Meet a Man Willing to Sell a Kidney, Another Who Needs One
Faced with financial problems, a Chicago-area man turned to the Internet and took the drastic measure that countless others have: offered to sell an organ.
"I was kind of joking about it one day at work and I thought why not?" said Michael Nelson of Aurora. "I could help someone out and they could help me out at the same time."
The 40-year-old said he received numerous hits on his Craigslist ad -- one kidney in exchange for $30,000 -- which ran for about a month. Before he knew he was corresponding with NBC Chicago, Nelson said he was struggling financially and that selling his kidney would alleviate his problems.
"I did some research and there's no difference between having one and two," Nelson later explained. "There tends to be no adverse side effects. ... Three weeks of lying around, that's not bad. Not a big deal."
But it is a big deal.
Knowingly acquiring, receiving or transferring any human organ for human transplantation in exchange for money or consideration is against the law and can be punishable with prison time, a fine of up to $50,000, or both. Chicago law enforcement agencies said they’ve never made any arrests in connection with illegal organ sales but said any allegation would be investigated.
Despite the potential penalties, NBC 5 INVESTIGATES found hundreds of people in Illinois and across the world who were willing to sell kidneys for thousands of dollars. We exchanged e-mails with individuals claiming to be organ brokers and doctors open to performing the illicit transplants.
And there is demand. Hundreds of thousands of people currently wait for organ transplants, fueling a black market of human organs.
"It's tough to hear about people who could buy a kidney when there's people like myself waiting patiently for years to receive one," said Daniel Perez, who was diagnosed with kidney failure about two years ago. The 35-year-old Logan Square resident has been on a waiting list for 18 months, and until there’s a compatible donor, his four-hour, three-times-a-week dialysis treatments are his only legal option for survival.
"I think that all of us that sit here, we know that hopefully we are getting an organ through the network and nobody thinks about the black market,” said Perez. “Everyone knows it exists, but no one really talks about it.”
Patients like Perez have to wait on average three to six years for an organ. It's that kind of desperation that has led some to extreme measures to circumvent the national organ donor list.
Dr. Yolanda Becker, the director of the Kidney and Pancreas Transplant program at the University of Chicago Medical Center, said she sees first-hand how the demand for organs has increased while supply has remained stagnant. Kidney failure has become nearly epidemic in the United States. Additionally, dialysis patients are surviving longer, meaning more are candidates for transplants.
"There's clearly a shortage of appropriate donor organs for a variety of reasons," said Becker.
The U of C program has about 650 patients on the list for an organ, and there are more than 122,000 people nationally on the wait list. In Illinois, statistics indicate about one patient dies each day while on the waiting list for an organ, according to Kevin Cmunt, the president and CEO of Gift of Hope, an Itasca-based non-profit that coordinates organ and tissue donation.
The disparity between supply and demand for organs has spurred talk within the medical community about the possibility of creating state-wide pilot programs that would permit the controlled sale of organs. Congress has so far been reluctant to change the 1984 law.
In the meantime, more than one human organ is sold illegally somewhere in the world every hour, according to a 2012 World Health Organization report. Most of those organs are kidneys. [Read more]
Dialysis News
News4 JAX, Jacksonville, Florida, Author: Jodi Mohrmann
New hope for dialysis patients
Nearly 400,000 Americans are on dialysis for kidney failure. The treatment uses a special machine to filter toxins from the blood and often requires a graft to connect an artery to a vein to speed blood flow. But in many patients, synthetic grafts lead to infection and frequent hospitalizations. Now a first of its kind bio-engineered blood vessel is changing that.
William Alexander has suffered with kidney failure for 15 years. Dialysis keeps him alive.
“[It’s not] like you can’t do it,” Alexander said. “You’ve got to have dialysis to live.”
However, his arm tells the story of failed blood vessel grafts used to help clean his blood.
“It’s disfiguring,” said Jeffrey Lawson, MD, PhD, Professor of Vascular Surgery and Pathology at Duke University Medical Center in Durham, North Carolina.
It’s a reality Lawson says most patients face.
“I tell many of my patients they can expect to have a procedure related to dialysis at least once a year,” Lawson explained.
Now, a new bio-engineered blood vessel using donated human cells could change that.
“We’ll be able to reduce the number of interventions they have to have,” Lawson said. [Read more]
The world's first miniaturized kidney dialysis machine has saved the lives of eight babies in nine months, the Italian scientists who raised the money to build it said on Friday.
Until now, babies with kidney failure were treated with machines built for adults, with smaller filters and other imprecise adaptations that tend to withdraw too much or too little of the waste fluid building up in the body.
"Incredible but true," said Claudio Ronco from the San Bortolo Hospital's renal research institute in Vicenza. "It's like using a tool for a car to fix a watch."
Yet companies have been loath to invest in baby-targeted machines as they are not profitable enough, he added.
"The number of neonates (infants) around the world that suffer from this disorder is very small and therefore there is no point for a company to invest in technology."
So Ronco and colleagues launched a fundraising programme, hosting sports games and concerts and collecting some 300,000 euros ($410,000) to build a prototype.
This attracted help from two Italian manufacturers, and so the child-friendly machine dubbed CARPEDIEM (Cardio-Renal Paediatric Dialysis Emergency Machine) was born.
The first beneficiary, a girl with multiple organ failure weighing just 2.9 kilogrammes (6.4 pounds), was treated in August last year.
"The baby was almost dead," Ronco told AFP. "This baby could not be treated with any other treatment. When the baby was discharged from hospital we really had the impression that we had done something very good." [Read more]
From Gnomes National News Service, Switzerland, Press Release
Debiotech, AWAK and Neokidney Development sign partnership to bring compact home haemodialysis machine to first patients by 2017
Today three international innovators join forces to develop and deliver to patients the world’s first portable artificial kidney. Debiotech of Switzerland, AWAK of Singapore and Neokidney Development, an initiative of the Dutch Kidney Foundation, have signed a joint venture agreement to complete a functional model in 2015. Clinical trials are planned for 2017. The portable artificial kidney will enable the frequent and longer home haemodialysis that significantly improves and extends patients’ lives.
With over 3 million people worldwide suffering from End-Stage Renal Disease (ESRD) and nowhere near enough organ donors, almost 2.5 million patients have no alternative but haemodialysis (an intrusive and imperfect treatment that requires patients to visit a dialysis center 3-4 times a week for 3-4 hour sessions that approximate just 10-15% of the toxin removal by a healthy kidney). The impact of such an innovative product on patients’ health, autonomy, quality of life and life expectancy could be immense.
The joint venture will deliver a compact dialysis machine that patients can use themselves, directly at home. Scientific research has already established that frequent and longer dialysis (e.g. at night) limits the treatment’s side effects, including dialysis hangover and cardiovascular stress, and increases both autonomy and life expectancy. Moreover, home (night-time) haemodialysis is considerably cheaper than in-center treatment. The portable artificial kidney developed by the partnership will finally bring these benefits within the reach of patients and society. [Read more]
PKD Cancer Risk
From Philly.com, HealthDay News
Cancer risk for kidney transplant recipients may vary depending on the type of kidney disease they have, a new study finds.
Patients with polycystic kidney disease (PKD), a genetic disorder, may be less likely to develop cancer than those with other types of kidney disease, but they still have a higher cancer risk than people in the general population, the researchers found.
In polycystic kidney disease, cysts form in the kidneys, causing the kidneys to become enlarged. The condition affects nearly one in 1,000 people in the United States.
The research team analyzed data from more than 10,000 Americans with polycystic kidney disease who received a kidney transplant and more than 107,000 transplant recipients with other kidney diseases.
After adjusting for a number of factors, the researchers concluded that patients with polycystic kidney disease were 16 percent less likely to develop cancer than those with other kidney diseases. Compared to people in the general population, cancer risk was 48 percent higher in polycystic kidney disease patients and 86 percent higher among those with other kidney diseases.
The study was published online May 22 in the Journal of the American Society of Nephrology.
It's not clear why polycystic kidney disease patients have a lower cancer risk than other kidney disease patients, "but some factor or factors in PKD patients -- either inherent in the disease process itself or related to the care PKD patients receive -- is associated with lower risks of cancers," Dr. James Wetmore, of the University of Kansas Medical Center, said in a journal news release.
"Further study is required to determine how PKD might influence the development of cancer," he added.
It may be that polycystic kidney disease may trigger certain defenses that protect against cancer. Or it's possible that because of their disorder, people with polycystic kidney disease adopt healthy habits that help protect them against cancer, Wetmore suggested. [Read more]
PKD Fundraising
From Herald-Argus, La Porte, Indiana
More than $1,500 raised at annual Cruise
Polycystic Kidney Disease affects 600,000 Americans and 12.5 million children and adults worldwide. There is no treatment or cure, but there is hope, said Cruise Chairperson Laura Moyer.
This event is very personal to Moyer, as she received a kidney transplant in December 2011 from the genetic disease.
This year's Cruis'n For a Cure sponsors included La Porte County Fair, Miller's Port-A-Pots, Root Funeral Home, La Porte Chrysler, and MC Auto, Scotty's Dynamic Design, Starbucks, Marshall's I Street Custom Meats, Kreamo Bakery, Moose Lodge No. 980 of Michigan City, The News-Dispatch, The La Porte County Herald-Argus, Harbor County News, Family Express and Blue Chip Casino, Hotel & Spa.
Moyer on Monday expressed thanks to the cruise committee, including Jeff Moyer, Mike and Debbie Paholski, Jim and Mary Tanner, Kristin Smith, Evelyn Bechinski, Cathy Dye and La Porte County Sheriff Mike Mollenhauer for leading the cruise.
Moyer said this was a great start of this year's fundraiser for PKD. She said the next PKD event will be the two-mile walk for PKD on Sept. 20 at Creek Ridge County Park.
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