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.