Peter G.Czarnecki, MD, Division of Renal (Kidney) Medicine at Brigham and Women’s Hospital (BWH), discusses management, treatment, and the latest research of Polycystic Kidney Disease.
Polycystic kidney disease is one of the most commonly inherited disorders and it is the most common genetic disease of the kidneys. In the United States, this affects about 200,000 to 600,000 people. Polycystic kidney disease is a disease that takes years to develop and many individuals don't even know that they have PKD unless they have a strong family history of the disease.
There are two major genes that can cause polycystic kidney disease, PKD1, PKD2. PKD1 is responsible for 85 percent of all polycystic kidney disease cases; PKD2, is responsible for 15 percent. We see, on average, the patient with the mutation in the PKD2 gene has a slower progression
Typical symptoms of polycystic kidney disease are fullness and flank pain because kidneys with a large burden of cysts tend to take up a lot of space. Early satiety can be one of these symptoms; flank pain, occasionally; blood in the urine or, as we call it, hematuria; kidney colics; cramping pain; development of kidney stone disease; cyst rupture, bleeding into a cyst, or infection.
At Brigham and Women’s Hospital our goal is to help people with PKD through many different routes. Research performed at Brigham and Women's Hospital will help future generations of patients with PKD by understanding the cell biology and biochemical aspects of the disease. For our present patients with PKD, we are invested in providing the best possible state-of-the art clinical follow-up, the best possible genetic counseling, and the possibility of inclusion into therapeutic trials with new drugs that may come on the market in the near future.
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