RT Journal Article SR Electronic T1 Human complement factor H deficiency associated with hemolytic uremic syndrome. JF Journal of the American Society of Nephrology JO J. Am. Soc. Nephrol. FD American Society of Nephrology SP 2318 OP 2326 VO 9 IS 12 A1 Rougier, N A1 Kazatchkine, M D A1 Rougier, J P A1 Fremeaux-Bacchi, V A1 Blouin, J A1 Deschenes, G A1 Soto, B A1 Baudouin, V A1 Pautard, B A1 Proesmans, W A1 Weiss, E A1 Weiss, L YR 1998 UL http://jasn.asnjournals.org/content/9/12/2318.abstract 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.