There’s Hope for Genetic Kidney Disease on the Horizon

Disclaimer: Results are not guaranteed*** and may vary from person to person***.

For people with autosomal dominant polycystic kidney disease (ADPKD), the options for treatment are limited, but that may change soon. You may have not heard much about this genetic kidney disease, but it affects 600,000 people in the United States.

 This means that ADPKD affects more people than muscular dystrophy and cystic fibrosis combined. The disease causes a large number of cysts (overgrowths of cells) in the kidneys.

 Normally, cysts are not a big problem, as long as they are benign. The problem is that people with ADPKD have so many of these cysts — often ones that can get as large as footballs — that they seriously impede the kidneys’ ability to function. Considering your kidneys are not much bigger than a fist, you could see how a football-sized growth on them might be a problem.

 Many people with this disease need to be taken to hospital for kidney dialysis. In the end, most of these people require kidney transplants. These can be effective, but organ transplants are still tricky. It’s very hard to find an exact organ match that the person’s body will not reject.

 On top of that, there are immune-suppressing drugs that need to be taken in order to combat the body’s natural desire to attack the organ. Then, of course, there is the lengthy recovery time from surgery. Even more daunting is the fact that not many kidneys are available for transplantation, so people who don’t have a family member to donate a kidney can be left on dialysis for a lifetime.

 Luckily, there’s some breakthrough genetic research that is now shedding light on what causes ADPKD and this may help doctors to find new ways of treating the disease. An article in the journal Developmental Cell revealed the cellular changes that occur in patients with this strange disease. It appears that the pathway to ‘polycystin-1’ (a receptor) is activated inappropriately in this disease.

 Researchers discovered how this is happening — it’s basically a series of switches that are turned on when they should be left off. Having this information at hand, researchers can now start to work toward gene therapy that can reverse these switches and hopefully stop the growth of the cysts before they become a serious problem. This may mean better living for hundreds of thousands of people.

 We’ll keep you posted on new developments.

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