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.