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Kidneys Sometimes Removed Needlessly in Patients With Rare Genetic Disorder
Date:1/11/2013

s can be disfiguring and distressing. And in some cases, angiomyolipomas lying on the kidneys can grow so large they disrupt kidney function.

But not all doctors are familiar with tuberous sclerosis, so they might mistake those growths for something more insidious.

"I had a [pediatric] patient who came to me a couple of years ago," Rabenou said. "She had angiomyolipomas in her kidneys -- and you can get massive amounts of tumors in the kidneys, sometimes you can't even see the kidneys. She went to a urologist at a major hospital nearby and was told she needed one-and-a-half kidneys removed."

Luckily, the patient was also taken to Rabenou, a specialist in tuberous sclerosis. "I told the parents I would just leave her alone," he said. "I would do an angiography and embolize the angiomyolipomas [to reduce bleeding] but I certainly would not take out her kidneys."

In other cases, Rabenou said, a partial removal of the kidney -- for example, the tissue next to an external angiomyolipoma -- would suffice instead of total removal of the organ.

Tuberous sclerosis has long been difficult to treat. But that might change: An international study published Jan. 10 in The Lancet found that the drug everolimus (Afinitor) was successful in treating kidney complications in some cases of tuberous sclerosis or a related condition.

The new study was led by Dr. John Bissler, chair of nephrology at Cincinnati Children's Hospital Medical Center, and involved adults with at least one large kidney angiomyolipoma. Participants were randomly assigned to either take everolimus or inactive placebo pills daily for about 38 weeks.

Ninety-eight patients completed the study. Of those on everolimus, 42 percent had their tumors reduced by at least half. None of the placebo patients had this response.

Novartis, the maker of everolimus, funded the study, and several of the authors are Novartis consultants.

"The drug is a big breakthrough
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