PT - JOURNAL ARTICLE AU - Rougier, N AU - Kazatchkine, M D AU - Rougier, J P AU - Fremeaux-Bacchi, V AU - Blouin, J AU - Deschenes, G AU - Soto, B AU - Baudouin, V AU - Pautard, B AU - Proesmans, W AU - Weiss, E AU - Weiss, L TI - Human complement factor H deficiency associated with hemolytic uremic syndrome. DP - 1998 Dec 01 TA - Journal of the American Society of Nephrology PG - 2318--2326 VI - 9 IP - 12 4099 - http://jasn.asnjournals.org/content/9/12/2318.short 4100 - http://jasn.asnjournals.org/content/9/12/2318.full SO - J. Am. Soc. Nephrol.1998 Dec 01; 9 AB - This study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunoblotting, of the 42-kD Factor H-like protein 1 (FHL-1) and other FH-related protein (FHR) bands. Southern blot and PCR analysis of DNA of one patient with homozygous deficiency ruled out the presence of a large deletion of the FH gene as the underlying defect for the deficiency. The other four children presented with heterozygous deficiency and exhibited a normal immunoblotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a role for FH and/or FH receptors in the pathogenesis of idiopathic HUS.