Article
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.
Clinical journal of the American Society of Nephrology : CJASN - 1 Aug 2009
Lhotta Karl, Janecke Andreas R, Scheiring Johanna, Petzlberger Barbara, Giner Thomas, Fally Verena, Würzner Reinhard, Zimmerhackl Lothar B, Mayer Gert, Fremeaux-Bacchi Veronique
Abstract excerpt
BACKGROUND AND OBJECTIVES: Atypical hemolytic uremic syndrome (aHUS) is associated with mutations in genes encoding complement-regulatory proteins factor H, I and B and membrane cofactor protein. Recently, heterozygous gain-of-function mutations in the complement C3 gene have been found in patients with aHUS. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: A large family with a C3 R570Q mutation is described....
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