Hereditary partial deficiency of the third component of complement associated with minimal change nephrotic syndrome.
We describe a 10 year old patient admitted to the Children's Hospital of Buffalo with hypocomplementemia associated with steroid responsive minimal change nephrotic syndrome. The sibling also had a low serum C3 concentration and all family members studied had C3 slow phenotypes. Factor I levels were at the lower limit of normal in the patient and his brother. Functional assays for CH50, total hemolytic C3 and serum concentration of C2, C4-C9 and factors B and H were all within normal limits. This case confirms that a depressed serum complement level can occur in minimal change nephrotic syndrome and indicates that this depression could represent a preexisting inherited rather than an acquired deficiency. The findings are consistent with the presence of a null or hypomorphic C3 slow allele in hypocomplementemic family members. Additional studies are needed to resolve the association between the inherited partial C3 deficiency and minimal change nephrotic syndrome.
Springate
J E
JE
Department of Pediatrics, Children's Hospital of Buffalo, NY 14222.
McLean
R H
RH
Winkelstein
J A
JA
Feld
L G
LG
D002648:Child; D003176:Complement C3 / Q000172:deficiency*; D006801:Humans; D008297:Male; D009402:Nephrosis, Lipoid / Q000235:genetics / Q000276:immunology*
D003176:Complement C3