“Adults would stare, and kids would come up and ask if she had a baby in her tummy,” says Justine Harbin of Weirton, WV, about her daughter, Mia, 4. Mia has polycystic kidney disease (PKD). So does Ms. Harbin, and Mia’s two sisters, Lilly and Kennedy. That’s why the appearance of Mia’s kidneys on the ultrasound didn’t come as much of a surprise to her (“They took up her whole stomach,” she says). Neither did the official diagnosis of PKD that was made shortly after Mia’s birth.
“A year before her transplant, Mia’s kidneys were over three times the normal length, let alone volume. When you picked her up to put her on the examination table, you could feel the cysts between your fingers. I’ve never seen anything remotely like the degree of PKD that Mia had.”
PKD is a genetic disorder in which kidneys develop cysts filled with fluid that can grow and cause damage, leading to kidney failure. Other complications include liver damage and high blood pressure. Mia’s liver wasn’t involved, but her blood pressure became increasingly hard to control, despite being on four different medications at once. Soon, signs of congestive heart failure appeared, and Mia would easily become tired and short of breath. The tiniest kid in her class, she was also falling off the growth curve for her age.
Time to Act
Failing kidneys aren’t always removed, but if they’re infected, or if there isn’t room for them, they will be, in a procedure called a nephrectomy. Nephrectomies and transplants aren’t typically performed together. Patients with PKD most often undergo the nephrectomy first, then stay on dialysis for months or years until his or her doctors determine that the time is right for a transplant.
But not this time. “We thought that Mia was not the best candidate for dialysis, for a couple of reasons,” says Dr. Nguyen. “The family lives an hour-and-a-half away, so the burden of coming to Pittsburgh three, four, five times each week was a huge undertaking.”
As it happens, there was an even better reason: Abhinav Humar, MD, division chief of UPMC Transplant Surgery, was willing to perform the nephrectomy and transplant as part of the same surgery. “Our nephrology team is experienced, and we have the surgical expertise to back it up,” he says “We transplant children that maybe other centers are reluctant to transplant, or they make them wait.”
In June 2016, Mia had both kidneys removed and received a transplant from a live donor. The procedure took under six hours, and during it, Mia went from 35 to 25 pounds—shedding 10 pounds of kidney. “There was almost more kidney than Mia in there,” says Ms. Harbin.
After Transplant
To say that Mia rebounded from the surgery would be an understatement. The blood pressure that Dr. Nguyen characterized as “ridiculously high” went back to normal during her hospital stay, and Dr. Nguyen believes that her symptoms of congestive heart failure will resolve with time. She’s shown great catch-up growth, and is making up with lost time when it comes to running, and, says her mom, bossing everyone around.
“To see her blossom and thrive and chase her sister down the hallway – she’s doing things she could never do before,” says Dr. Nguyen. “It’s like this huge burden was just taken from her, and she’s just the picture of what you want a kid to be at that age. That’s why we transplant.”
PKD & Kidney Research From The Hindu, by TAMIL NADU
CHENNAI: By the end of the decade it may not be necessary to wait for a cadaveric kidney or a donor for a renal transplant. Then, it might b possible to have an artificial device that would take over the function of the kidney.
Research in this regard has been on for the past 15 years and indications are that by end-2017, the device would be tested for its safety on patients. A clinical trial would involve not more than a dozen patients, said Shuvo Roy, researcher from the University of California, San Francisco.
Dr. Roy, who delivered the Mrs. Malathi VenkatesanTANKER Foundation memorial lecture on Wednesday, spoke about the device and how it evolved.
The device is designed in such a way that it would not only carry out the job of a dialysis machine but cell membrane from a cadaveric kidney injected along with the device would ensure a continuous supply of nutrition is available. The device not only dispenses with dialysis but also helps maintain the health of the patient. It also does not require anti-coagulant drugs.
A bioengineer, Dr. Roy said though kidney failure affects only 0.1% of the population in the United States but consumes around 7% of the national budget, that is US$ 33 billion. Given this scenario, and the fact that the safety test and the efficacy test are yet to be done he said it is difficult to speculate over the price of the device. Yet, it would, be a boon as the cost of the device could be either as much as or lower than a renal transplant. And dialysis is three times more expensive than transplant.
While the safety test would be done on not less than a dozen patients the efficacy test would require at least 100 patients. “We envision safety test next year and the efficacy test probably in three years and that would be the proof of the product,” he said.
The shelf life of the device would depend on the data that would be generated during the efficacy test. Even if the device lasts one or two years, easy access to a replacement would have to be ensured, he added.
Sowmya Swaminathan, secretary, Department of Medical Research said in India at least 1% of the population suffers from end stage renal disease. She said Indian start-up companies could collaborate to manufacture the device for the country’s requirement.
The latest Pharmaceutical and Healthcare disease pipeline guide Polycystic Kidney Disease - Pipeline Review, H2 2016, provides an overview of the Polycystic Kidney Disease (Genetic Disorders) pipeline landscape.
Report Highlights
Pharmaceutical and Healthcare latest pipeline guide Polycystic Kidney Disease - Pipeline Review, H2 2016, provides comprehensive information on the therapeutics under development for Polycystic Kidney Disease (Genetic Disorders), complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type.
The guide covers the descriptive pharmacological action of the therapeutics, its complete research and development history and latest news and press releases.
The Polycystic Kidney Disease (Genetic Disorders) pipeline guide also reviews of key players involved in therapeutic development for Polycystic Kidney Disease and features dormant and discontinued projects. The guide covers therapeutics under Development by Companies /Universities /Institutes, the molecules developed by Companies in Pre-Registration, Phase III, Phase II, Phase I, Preclinical and Discovery stages are 1, 1, 2, 1, 11 and 2 respectively for Similarly, the Universities portfolio in Preclinical and Discovery stages comprises 2 and 2 molecules, respectively for Polycystic Kidney Disease.
Polycystic Kidney Disease (Genetic Disorders) pipeline guide helps in identifying and tracking emerging players in the market and their portfolios, enhances decision making capabilities and helps to create effective counter strategies to gain competitive advantage. The guide is built using data and information sourced from proprietary databases, company/university websites, clinical trial registries, conferences, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources.
Additionally, various dynamic tracking processes ensure that the most recent developments are captured on a real time basis.
Polycystic kidney disease (PKD) is a genetic disorder that causes many fluid-filled cysts to grow in your kidneys. Unlike the usually harmless simple kidney cysts that can form in the kidneys later in life, PKD cysts can change the shape of your kidneys, including making them much larger.
PKD is a form of chronic kidney disease (CKD) that reduces kidney function and may lead to kidney failure. PKD also can cause other complications, or problems, such as high blood pressure, cysts in the liver, and problems with blood vessels in your brain and heart.Polycystic kidney disease is a genetic disorder that causes many fluid-filled cysts to grow in your kidneys. What are the types of PKD?
PKD is one of the most common genetic disorders. PKD affects about 500,000 people in the United States.1
ADPKD affects 1 in every 400 to 1,000 people in the world, and ARPKD affects 1 in 20,000 children.2,3 Who is more likely to have PKD?
PKD affects people of all ages, races, and ethnicities worldwide. The disorder occurs equally in women and men.
What causes PKD?
A gene mutation, or defect, causes PKD. In most PKD cases, a child got the gene mutation from a parent. In a small number of PKD cases, the gene mutation developed on its own, without either parent carrying a copy of the mutated gene. This type of mutation is called “spontaneous.” Read more about genes and genetic conditions . What are the signs and symptoms of PKD?
The signs and symptoms of ADPKD, such as pain, high blood pressure, and kidney failure, are also PKD complications. In many cases, ADPKD does not cause signs or symptoms until your kidney cysts are a half inch or larger in size.
Early signs of ARPKD in the womb are larger-than-normal kidneys and a smaller-than-average size baby, a condition called growth failure. The early signs of ARPKD are also complications. However, some people with ARPKD do not develop signs or symptoms until later in childhood or even adulthood.
Can I prevent PKD?
Researchers have not yet found a way to prevent PKD. However, you may be able to slow PKD problems caused by high blood pressure, such as kidney damage. Aim for a blood pressure goal of less than 120/80. Work with a health care team to help manage your or your child’s PKD. The health care team will probably include a general practitioner and a nephrologist, a health care provider specializing in kidney health.
PKD Foundation co-Founder Jared J. Grantham, MD, passed away Sunday, Jan. 22 at 80 years old, the charity announced Jan. 24. He had been undergoing treatment for cancer.
Grantham and Joseph Bruening founded the PKD Foundation in 1982, with a vision to find treatments and a cure for polycystic kidney disease.
Grantham graduated from the University of Kansas School of Medicine and did his residency in internal medicine at the Kansas University Medical Center (KUMC). He also did a research fellowship at the National Heart Institute’s laboratory of kidney and electrolyte metabolism. Grantham became an assistant professor of medicine at KUMC in 1969. He served as Director of the Division of Nephrology from 1970 to 1995.
In 1989, Grantham founded and served as the first Editor-in-Chief of the Journal of the American Society of Nephrology. He also served as Program Chairman of ASN in 1985 and was a member of the Council for 10 years. From 1988–1989, he served as Secretary-Treasurer of ASN.
Memorial services will be held at Indian Heights United Methodist Church at 10211 Nall Ave, Overland Park KS 66207. Visitation services will be on Friday, Jan. 27 from 6:30 to 8:30 p.m., and a Celebration of Life will be held on Saturday, Jan. 28 at 2 p.m.
In lieu of flowers, Grantham’s family is accepting donations to the PKD Foundation to continue to advance his vision.
To see more information on Grantham, and share a memory, visit the PKD Foundation website.
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