title: Human complement factor H deficiency associated with hemolytic uremic syndrome.
abstract: 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.
authors.affiliation: Service d'Immunologie, Hôpital Broussais, Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Rougier
authors.forename: M D
authors.initials: MD
authors.lastname: Kazatchkine
authors.forename: J P
authors.initials: JP
authors.lastname: Rougier
authors.forename: V
authors.initials: V
authors.lastname: Fremeaux-Bacchi
authors.forename: J
authors.initials: J
authors.lastname: Blouin
authors.forename: G
authors.initials: G
authors.lastname: Deschenes
authors.forename: B
authors.initials: B
authors.lastname: Soto
authors.forename: V
authors.initials: V
authors.lastname: Baudouin
authors.forename: B
authors.initials: B
authors.lastname: Pautard
authors.forename: W
authors.initials: W
authors.lastname: Proesmans
authors.forename: E
authors.initials: E
authors.lastname: Weiss
authors.forename: L
authors.initials: L
authors.lastname: Weiss
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D001798:Blood Proteins / Q000032:analysis; D015139:Blotting, Southern; D015153:Blotting, Western; D002675:Child, Preschool; D017242:Complement Factor H / Q000172:deficiency* / Q000235:genetics; D003165:Complement System Proteins / Q000032:analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006463:Hemolytic-Uremic Syndrome / Q000097:blood / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D005810:Multigene Family
chemical_list: D001798:Blood Proteins; C493495:CFH protein, human; C100631:factor H-related protein 1; C100632:factor H-related protein 2; D017242:Complement Factor H; D003165:Complement System Proteins