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

By Lisa Esposito
HealthDay Reporter

THURSDAY, Jan. 10 (HealthDay News) -- Too often, patients with a relatively rare genetic disorder called tuberous sclerosis undergo unnecessary surgical removal of a kidney, experts say.

This happens because benign growths that are caused by the disorder are sometimes interpreted as cancers by doctors who are unfamiliar with tuberous sclerosis, one specialist said.

For people who come to the doctor with kidney problems and who then show signs of a mass on the organ on imaging scans, "a lot of times there's an indication that they remove part or the whole kidney," said Dr. Rahmin Rabenou, a clinical assistant professor of medicine at New York University School of Medicine and kidney specialist at NYU's Tuberous Sclerosis Center.

However, "those rules don't really apply to tuberous sclerosis [which has] all sorts of unusual findings in the kidneys," he said.

Unfortunately, doctors unfamiliar with the disorder too often "use the rules for people without tuberous sclerosis: 'Oh, this kidney needs to be removed,'" Rabenou explained.

Tuberous sclerosis complex affects about one in every 6,000 people and causes benign, often fat-filled, bleeding tumors called angiomyolipomas to form throughout the body. The disease can affect the brain, heart, kidneys, skin and eyes.

"It classically presents in infancy with seizures, which are due to brain tubers (growths), but it is a lifelong disease," Rabenou said. "As people with tuberous sclerosis get older, about 80 percent or so will develop angiomyolipomas in the kidneys. The angiomyolipomas are benign but they can be dangerous because they can bleed [and for this reason] they can be lethal."

While not cancerous, the tumors are also disruptive wherever they occur. Patients with brain involvement may have seizures, for example, and some have severe learning disabilities. Facial tumors containing blood vessel
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