Human complement factor H deficiency associated with hemolytic uremic syndrome.

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 ure- mic syndrome (HUS). Two of the children exhibited a ho- mozygous deficiency characterized by the absence of the 150-kD form of Factor H and the presence, upon immunobbot- ting, of the 42-kD Factor H-like protein 1 (FHL-l) and other FH-related protein (FHR) bands. Southern blot and PCR anal- ysis 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 hetenozygous deficiency and exhibited a normal immunobbotting pattern of proteins of the FH family. Factor H deficiency is the only complement deficiency associated with HUS. These observations suggest a robe for FH and/or FH