Article
Familial C3 glomerulonephritis associated with mutations in the gene for complement factor B.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 May 2015
Imamura Hideaki, Konomoto Takao, Tanaka Etsuko, Hisano Satoshi, Yoshida Yoko, Fujimura Yoshihiro, Miyata Toshiyuki, Nunoi Hiroyuki
Abstract excerpt
We report the first case of familial C3 glomerulonephritis (C3GN) associated with mutations in the gene for complement factor B (CFB). A 12-year-old girl was diagnosed with biopsy-proven C3GN. Her mother had a history of treatment for membranoproliferative glomerulonephritis, and her brother had hypocomplementemia without urinary abnormalities. DNA analysis revealed heterozygosity for CFB p.S367R in the patient,...
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