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

for several reasons," said Rabenou, who was not involved with the research. "It gives us a drug treatment for this disease that we've really only had surgical treatments for," he noted.

"It's also a breakthrough to have a drug that targets a molecular pathway, so it's directed at the genetic cause of a disease, which is a mutation in the TSC1 or TSC2 genes," he said. "Having a drug such as everolimus gives us an option to direct our therapy at the molecular pathway. And that's very exciting."

Jo Coombs, a clinical research nurse at Cincinnati Children's, said that body image is a major issue for many tuberous sclerosis patients. She pointed out another everolimus benefit: It can shrink skin tumors, too.

"When teenagers or young adults come in, one of the very first things they'll ask about or wonder about is the fibromas on the face," Coombs said. "A lot of the patients don't even know that the medication will help these, as an added bonus, so it's a positive side effect."

Everolimus did have study side effects, however, including headache, cough and canker sores of the mouth. In addition, 13 percent of women experienced loss of their menstrual period, mostly temporary. The study noted that this could be a potential cause for concern when considering the drug for women of childbearing age.

But everolimus has potential to improve patients' quality of life, Rabenou believes.

"My hope is that the drug will help patients with tuberous sclerosis and multiple renal [kidney] angiomyolipomas that in the past have required repeated embolizations," he said. "I think this drug will control the growth of these angiomyolipomas and decrease the need for embolization therapy."

Study author Bissler added that "this is a huge step forward, but additional research needs to be done."

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