Thursday, April 24, 2014

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease

utosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder caused by mutation in either one of two genes, PKD1 and PKD2. High structural and sequence complexity of PKD genes makes the mutational diagnostics of ADPKD challenging.

The present study is the first detailed analysis of both PKD genes in a cohort of Czech patients with ADPKD using High Resolution Melting analysis (HRM) and Multiplex Ligation-dependent Probe Amplification (MLPA). 

Methods: The mutational analysis of PKD genes was performed in a set of 56 unrelated patients. For mutational screening of the PKD1 gene, the long-range PCR (LR-PCR) strategy followed by nested PCR was used.

Resulting PCR fragments were analyzed by HRM; the positive cases were reanalyzed and confirmed by direct sequencing. Negative samples were further examined for sequence changes in the PKD2 gene by the method of HRM and for large rearrangements of both PKD1 and PKD2 genes by MLPA. 

Results: Screening of the PKD1 gene revealed 36 different likely pathogenic germline sequence changes in 37 unrelated families/individuals.

Twenty-five of these sequence changes were described for the first time. Moreover, a novel large deletion was found within the PKD1 gene in one patient.

Via the mutational analysis of the PKD2 gene, two additional likely pathogenic mutations were detected. 

Conclusions: Probable pathogenic mutation was detected in 71% of screened patients. Determination of PKD mutations and their type and localization within corresponding genes could help to assess clinical prognosis of ADPKD patients and has major benefit for prenatal and/or presymptomatic or preimplantational diagnostics in affected families as well.

Author: Lena ObeidováVeronika Eli¿ákováJitka ¿tekrováJana ReiterováMiroslav MertaVladimír Tesa¿Franti¿ek Lo¿anMilada Kohoutová
Credits/Source: BMC Medical Genetics 2014, 15:41

Thursday, April 17, 2014

Patients with kidney failure to get a new lease on life

End stage kidney disease is a global public health problem with an estimated 2.4 million patients on dialysis. The number of new cases is rising (7-8% annually) due to population ageing and increased diabetes prevalence. The NEPHRON+ project is improving the lives of patients by developing a wearable artificial kidney device, enabled with information and communication technologies for remote monitoring.
Chronic kidney disease will affect one in ten of us at some point in our lives. For those of us unlucky enough to suffer renal failure as a result, the health consequences can be disastrous.
Without treatment kidney failure is deadly. However, even the best treatments are not ideal. Patients have to be treated with a dialysis machine at home or in hospital, sometimes as often as once every four hours. Patients spend a large part of their lives connected to dialysis equipment. What's more, the life expectancy of a person in their 20s who has suffered kidney failure is just 20 years, unless they're lucky enough to receive a donated organ.
All this could change, however. An EU-funded research consortium has been developing a wearable artificial kidney that would make it possible for dialysis patients to lead a more full and active life while adding another 10 to 16 years to their life expectancy.

Thursday, April 10, 2014

Innovative kidney transplant technique developed by Henry Ford Hospital

An innovative kidney transplant technique developed by Henry Ford Hospital is credited as the first in the world to use a new set of patient safety standards coordinated by the University of Oxford in England.
The standards are being assembled and offered as a framework for developing, performing and reporting surgical innovations that, unlike new medical treatments, are not under strict regulations and control.
One historic example cited by the Oxford group was the introduction of tracheostomy as a surgical method of treating an obstruction in the trachea. The technique was clearly an innovation at the time, but was not required to go through a randomized controlled trial or other strictures required of new prescription drugs and medical procedures.

Sunday, April 06, 2014

Polycystic Kidney Disease - (PEV) Patient Education Video

Cary has end-stage renal disease and his kidneys are failing.

Cary has polycystic kidney disease (PKD). This means that his kidneys are failing and that it is only a matter of a short time before he will need a kidney transplant. He has been living with this disease for more than 40 years and it continues to progress steadily. Now, with only 18% kidney function remaining, there is a new urgency to help him find a donor kidney very soon.
For those of us lucky enough to know Cary well, we know how vital and brilliant he is. His enduring devotion to his many friends and family is what we love so much about him. Many of these wonderful friendships go back more than 30 years and bring so much joy and substance to his life. And every friend feels the same way about him. We all appreciate and rely on Cary’s positive energy, unending support and guidance as we all go though our own struggles and celebrations in life.
His tireless contributions and the love he brings to the many nonprofit organizations he works with are unending. His uncanny ability and creativity in helping a company, brainstorming an idea, launching a new product, running a fundraising event and always, working nonstop until it’s done as well is it could possibly be done. And anyone who knows Cary also knows his love for his Cape Cod life and home, for cooking incredible meals for friends old and new, and of course, his pooch Jackson. All these things sustain him. And they are part of what drives his generosity and amazing focus on maintaining his health and fitness – which thankfully, is preparing him well for what lies ahead. It’s hard for us to say this, but this wonderful life is fragile and threatened, until we find him a kidney donor.
That is why we are reaching out to you. We truly believe there are generous people out there who have always wanted to make a real difference in someone else’s life. Perhaps you’d consider donating a kidney yourself? But even if you are unable to donate personally, we could really use your help in spreading the word to caring people you might know. There may be a friend of yours out there who has always wanted to help like this. Surprisingly, this seems to be one of the most common reasons that someone chooses to donate an organ to someone in need – even to a complete stranger.
So please, consider sharing a link to this website with your friends and family and posting it on your Facebook page. It will make a real difference

Saturday, March 29, 2014

Saturday, March 15, 2014

What treatments are available for autosomal dominant Polycystic Kidney Disease (PKD)?

What treatments are available for autosomal dominant Polycystic Kidney Disease (PKD)?
Your child's physician will establish a treatment protocol for autosomal dominant PKD after careful consideration of her symptoms and medical history. Treatment approaches may include:

What treatments are available for autosomal PKD?
Your child's physician will establish a treatment plan for autosomal recessive PKD only after careful consideration of her symptoms and medical situation. Treatment approaches may include:
  • treatment for high blood pressure
  • treatment for urinary tract infections
  • hormonal therapy
  • dialysis
  • kidney transplantation
- See more at:

God Bless you Dr Herrin

Could grapefruit be good for your kidneys?

Scientists at Royal Holloway, University of London, have discovered that a natural product found in grapefruit can prevent kidney cysts from forming.
Naringenin, which is also present in other citrus fruits, has been found to successfully block the formation of kidney cysts, an effect that occurs in , by regulating the PKD2 protein responsible for the condition. With few treatments currently available, symptoms include  and loss of , and lead to the need for dialysis.
World Kidney Day, which is being marked across the globe tomorrow (13th March), aims to raise awareness of the importance of kidneys and the risk factors for kidney disease. The discovery of the benefits of naringenin could prove to be a vital step forward in the future treatment and prevention of kidney disease.
Professor Robin Williams, from the School of Biological Sciences at Royal Holloway, said: "This discovery is vital in helping us to understand how polycystic may be controlled and ultimately treated. Kidney disease is a debilitating condition that can be fatal and finding a treatment is a truly urgent health priority."
The team of researchers also included scientists from St George's, University of London, and Kingston University London.

NOAH COOPER NEEDS A KIDNEY: Plymouth man faces life-threatening dialysis due to kidney failure

  • You get what you give.

    In this case, Noah Cooper would get a kidney that would save his life and his donor would get the gift of knowing he or she had made it happen.
  • Read the whole story here 
  • Pass it on!

Friday, December 13, 2013

Wednesday, July 18, 2012

In His Own Words: A Donor's Experience

At a recent Walk for PKD, my wife and I stopped at the transplant information table and talked to the lady at the table and some others who stopped by. They were all organ recipients, or potential recipients, and shared their experiences and conditions. It was amazing how different their experiences were. Listening to others made me appreciate our transplant experience, which I would like to share from another perspective. I was my wife's living donor and want to encourage others to consider this option and let them know what to expect.
It's been over a year since I donated a kidney to Cris. My wife suffered from Polycystic Kidney Disease and was getting close to renal failure in the fall of 2005. She suffered chronic discomfort and was subject to numerous kidney and urinary tract infections for several years. Her kidneys were very large and covered with cysts. Cris' mother suffered from the same disease and went through years of dialysis and a failed transplant, so we were familiar with our options. Cris' condition required the removal of her kidneys before a transplant could be performed. This created some timing issues that we wanted to avoid. The kidneys would have to be removed and a recovery period would be required, then she would have to be put on the waiting list for a kidney. This could result in years of dialysis. I told Cris I wanted to be tested as a possible donor. This way, everything could be planned and scheduled. OrientationWe live in Winston-Salem, North Carolina and Cris was lucky enough to be a patient of Wake Forest University Physicians and North Carolina Baptist Hospital. The system this transplant team employs seems more patient-friendly than those described by other transplant patients. We attended an orientation presented by a transplant coordinator that included videos, handouts, and details and tips from some of her past experiences with other transplants.
We also met with a social worker. He was trying to determine if Cris was a good candidate for a transplant from an emotional point of view. How did she feel about another person's organ inside of her body and would she follow the doctors' instructions and regularly take her medication? I was given a two-page list of all of the possible negative outcomes from donating in order to test my resolve. We were told that donors sometimes change their minds at the last minute, and part of this interview was to make sure I wouldn't. The majority of these risks are consistent with those involved with any surgery that includes anesthesia. The only one I really had to consider was the risk that I might develop a kidney problem later in life. There is a history of high blood pressure and diabetes in my family, so it could be relevant. As always, people must weigh the risks when donating an organ.
Finally, we met with the financial representative from the hospital. She explained that Medicare covers the cost of the transplant and that Cris would remain covered for three years following the transplant. During this time, she could apply for the Medicare D prescription plan. She went over what was covered and all co-pays involved with the transplant. Her main objective was to make sure we could pay for Cris' prescriptions, since many transplant rejections are a result of a failure to take the medication. It's a shame that money is an issue when trying to extend a life or improve the quality of that life. There are a lot of economic considerations for the recipient, but this is about the donor experience. I never received a bill for anything related to my care from the initial test to my final check-up four months after the surgery.
Tests and Preparation From the information collected at these interviews, the transplant team decided that we were emotionally and financially equipped for the transplant. I was scheduled for a series of tests to determine if I was a match and healthy enough to donate. I had an EKG, a chest x-ray, and they drew nine vials of blood for tests. I was in the hospital less than two hours for all of this. We were a blood type match, matched 2 out of 6 antigens, and passed the cross-match test. It was a go!
At first, my meeting with my surgeon was not what I expected. He again made me aware of all of the risks. It was as though he was trying to talk me out of the operation. It was just one more test of my resolve, and once he was convinced, the examination proceded in a more positive light. He explained the procedure and the rest of the tests I would need. The donor is assigned a different surgeon than the recipient to reduce the likelihood of a conflict of interest. My welfare was the main concern of my doctor, just as my wife's health was her doctor's responsibility. There were two things he informed me of that concerned me I would have to get down to 220 pounds and deal with a catheter after the operation. Since I weighed over 260 pounds, I knew I had my work cut out for me. If I didn't lose the weight, he still might be able to remove the kidney, but not laproscopically. The risks and recovery time from laproscopic surgery are significantly less than with regular surgery.
From the information we read and discussions with our doctors, we learned that there are some advantages for the recipient of a kidney from a living donor over one from a cadaver. There is a lower rejection rate with a "live" kidney. The "live" kidney starts working easier because it is exchanged so quickly that it may not even stop functioning. Typically, the donor and the recipient are operated on in adjoining rooms separated only by a door. The donor goes in ahead of time, followed shortly by the recipient, and by the time the kidney is removed, the recipient is ready. It can be as short as ten minutes that the kidney is actually out of a body.
The final tests involved the injection of a fluid through an IV and the inspection of my kidneys at work. My kidneys were x-rayed before the fluid was introduced. After the fluid was injected, I was put into something similar to a CAT scan to examine my lower body. My kidneys were X-rayed again. I was asked to empty my bladder, and X-rayed one last time. Everything was fine.
Cris had her kidneys removed in March of 2006 and had about a two-month recovery period. By May, I had lost 40 pounds and was at 225. The doctor said this was close enough, so blood was drawn to verify one last cross-match test and the transplant team met to schedule the date for the operation.Surgery and RecoveryCris and I were admitted to the day hospital Monday afternoon for our Tuesday morning surgery. They took blood once again you have to get used to getting stuck. Since I wasn't going to get to eat the next day, the nurses brought me lots of snacks before my midnight deadline for eating and drinking. If you're donating an organ to your wife as I was, every female you come into contact with during this experience will think you're the nicest guy in the world and give you all the attention you want. We were on the same floor, so we spent some time together that night and Cris came to see me off when they came to get me about 6 a.m. I was taken to the preparation room where the anesthesia was administered and the next thing I remember was waking up in the recovery room with my daughters by my bed. Both of our surgeries were done and they told me Cris was doing fine, too.
When I woke up I was drowsy and drifting in and out. There was a device blowing oxygen below my nose. I can't tell you how long I spent in the recovery room. When I got into my regular room I felt no ill effects from the anesthesia, but was extremely thirsty.
Tuesday night I started to experience intense pain in my left shoulder. It scared me a little because I've always heard that pain in the left arm can be associated with a heart attack. The nurses and interns that visited had no explanation, but assured me there was nothing to worry about. It was particularly painful when I used the "incentive" breathing apparatus they give you to prevent blood clots in your lungs. I also received Hepron injections after the surgery to reduce the risk of blood clots. Wednesday afternoon I finally saw my doctor, who explained the pain. When they do the laproscopic procedure, the area of the surgery is inflated with gas to allow more work space. During recovery, this gas accumulates in the upper body, resulting in some pressure and consequently, some pain. I was scheduled to go home on Thursday, but had to stay and extra day because of a fever. The shoulder pain was gone by the next evening.
The most difficult part of the recovery was dealing with the healing of the six-inch or so incision made across the lower abdomen where the kidney was removed. Your doctor will want you to spend some time sitting up in a chair and walking as soon as possible. This was much easier after they removed the catheter Wednesday morning. There was no pain in having the catheter in or having it removed, it was just awkward to maneuver around with it in place. You can't really sit up, so you learn to get on your side and swing your legs to get in and out of bed. The first 24 hours I had a button that allowed me to dispense pain medication through my IV. I would give myself a dose before getting out of bed, but didn't need it when just lying in bed. They also wanted me to wear leg massagers whenever in bed, so I had to deal with getting them off and on every time I got up. It's the "sit-up" motion that is painful for a few weeks.
Long-Term RecoveryWe were both discharged Saturday morning. Fortunately, my sister came to stay with us for a couple of weeks during our recovery. I thought Cris and I would be able to handle all of the simple household tasks, but I was wrong. When you can't bend over or drive, and need to spend most of your time in a reclined position, you need some help. We'll never be able to thank her enough. The only medications I was given were a stool softener and some pain medication. For the first two weeks after the surgery, I found that I could sit up at the computer or watch TV for an hour or two, but then had to lie down for awhile. Cris and I would go for walks around our development, but it was pretty exhausting. After another two weeks, though, I was ready to return to work. Final ThoughtsI have described the details of my experience so that potential donors can know some of the things to expect. While I talk about some pain and complications, none of what I went through was severe enough to prevent me from doing it again (if I could) or recommending it to others. I will have my wife for many years to come, and my kids still have their mom. Cris will not have to endure the ordeal of dialysis and can experience a better quality of life. When people hear what I've done, they seem to be genuinely impressed with the generosity of my actions. That's nice, but if it inspires anyone else to do the same, it's great! I certainly didn't donate for any personal recognition - it's just the right thing to do for someone you love. Our social worker put another way that also makes the act worth doing. He said that donation of this type is like donating two kidneys one for Cris, plus the one that she would have gotten that went to someone else. I hope people out there will consider being a living donor.

PKD is Easily Complicated by UrinaryTract Infection

 Urinary tract infection is one of the common complications of Polycystic Kidney Disease (PKD), it includes cystitis, pyelonephritis, cysts infection and perinephric abscess. As for about 20 percent PKD patients, urinary tract infection is the earliest complication among the various complications of PKD. There are 50-70 percent of patients who are attacked by urinary tract infection once or more, and this complication is more common among women. When urinary tract infection occurs, patients had better prolong the time of taking antibiotics, however, it is hard to cure this complication completely and most of the urinary tract infection will develop to perinephric abscess and ichorrhemia, which have to be treated by surgical operations or drainage. According to clinical observations, 1/3 of PKD patients with chronic haemorrhagia are accompanied with urinary tract infection. Though patients have adopted antibiotic in time and prolonged the time of taking antibiotic, there are still some patients who are attacked by perinephric abscess and some patient even die because of this. So it is really very important to prevent and treat the urinary tract infection.
More here: