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Gene For Devastating Kidney Disease Discovered
Date:12/21/2009

Discovery suggests how toxin-filtering cells go awry

BOSTON, Dec. 21 /PRNewswire-USNewswire/ -- Researchers from Children's Hospital Boston and Brigham and Women's Hospital have identified an important genetic cause of a devastating kidney disease that is the second leading cause of kidney failure in children, according to The NephCure Foundation.

The study, published online December 20 by Nature Genetics, may provide clues to developing treatments for the disease, focal segmental glomerulosclerosis (FSGS), which currently forces children and young adults onto dialysis and often requires a kidney transplant. No effective treatments are known, and years of research have failed to uncover the underlying disease mechanism.

FSGS attacks the kidney's filtering system, causing proteins to be lost into the urine and reducing the kidney's ability to filter wastes from the blood. According to NephCure, which helped fund the study, 26 million Americans suffer from chronic kidney disease, of which FSGS is one of the most common forms.

Patients with FSGS are often treated with steroids, which are only partially effective and have very harsh side effects. In addition, they often face several trips a week to the hospital for dialysis, and many require a kidney transplant, along with lifelong treatment with powerful immunosuppressants to prevent organ rejection.

The research team, led by Elizabeth Brown, MD, of Children's Division of Nephrology, working in the laboratory of Martin Pollak, MD, of the Renal Division at Brigham and Women's Hospital, identified the gene by performing a genetic linkage analysis in two large families with FSGS. Linkage analysis is a gene-finding technique that compares affected with unaffected family members, looking for a piece of DNA whose location is already known, and that is inherited only by affected members. Using that piece of DNA as a "signpos
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SOURCE Children's Hospital Boston
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