Saturday, January 12, 2013

Kidneys Sometimes Removed Unnecessarily Due to Misdiagnosis of Genetic Disorder

http://www.sciencedaily.com/releases/2013/01/130110212323.htm

Jan. 10, 2013 — Thousands of individuals have had kidneys removed unnecessarily because doctors misdiagnosed their disease.

A new, international study published in The Lancet indicates that approximately one of every five individuals with kidney tumors common in patients with tuberous sclerosis complex (TSC), a genetic disorder, has had a kidney removed. Moreover, 40 percent had some kind of surgical procedure performed.

Proper diagnosis could have led to treatment that would have made surgery or kidney removal unnecessary, according to John Bissler, MD, a nephrologist at Cincinnati Children's Hospital Medical Center and lead author of the study.

"I can't tell you how many times I've heard from patients who say their doctors told them a kidney looks bad, is full of tumors, isn't working and has to come out," says Dr. Bissler, who co-directs the Tuberous Sclerosis Clinic at Cincinnati Children's. "But you can do studies on these patients and find out that they have normal kidney function. The kidney looks bad, but it works. Doctors are unfamiliar with tuberous sclerosis, so when they see tumors, they think it's renal cell carcinoma, perform surgeries trying to help, but before long the kidney is gone. This approach is unnecessary. Fortunately, many people come to us from around the world for a second opinion."

In TSC, it is common for [noncancerous] tumors to grow on vital organs. As many as 80 percent of TSC patients have these tumors, called angiomyolipomas, or AMLs. The new Cincinnati Children's study shows that everolimus, marketed by Novartis under the tradename Afinitor®, successfully shrinks AMLs in patients with TS.

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