Hereditary partial deficiency of the third component of complement associated with minimal change nephrotic syndrome

Pediatr Nephrol. 1987 Oct;1(4):608-10. doi: 10.1007/BF00853597.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child
  • Complement C3 / deficiency*
  • Humans
  • Male
  • Nephrosis, Lipoid / genetics
  • Nephrosis, Lipoid / immunology*

Substances

  • Complement C3