Stories about: kidney disease

Gene for devastating kidney disease discovered

stockphotopro_4658724TJN_closeup_of_a_yoA genetic discovery by researchers at Children’s and Brigham and Women’s Hospital brings new hope for a mysterious, devastating kidney disease called focal segmental glomerulosclerosis (FSGS). It’s the second leading cause of kidney failure in children and forces patients onto dialysis and, all too often, kidney transplant – only to recur in the transplanted kidney, sometimes within hours.

The research team, led by Elizabeth Brown, MD, of Children’s Division of Nephrology, performed a genetic linkage analysis in two large families with FSGS and identified a variety of mutations in a gene known as INF2. They then sequenced INF2 in 91 additional families. In all, they found INF2 mutations in 11 of 93 families, as reported online in Nature Genetics on December 20.

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