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 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.
Rougier
N
N
Service d'Immunologie, Hôpital Broussais, Paris, France.
Kazatchkine
M D
MD
Rougier
J P
JP
Fremeaux-Bacchi
V
V
Blouin
J
J
Deschenes
G
G
Soto
B
B
Baudouin
V
V
Pautard
B
B
Proesmans
W
W
Weiss
E
E
Weiss
L
L
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
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