Hypomorphic variant of the slow allele of C3 associated with hypocomplementemia and hematuria

Am J Med. 1985 May;78(5):865-8. doi: 10.1016/0002-9343(85)90296-7.

Abstract

This report describes the first instance of a hypomorphic variant (C3*s) of the most common C3 allele, C3 Slow, which was detected in a four-year-old Caucasian boy with hematuria. Analysis of C3 phenotypes, as determined by agarose electrophoresis, showed a hypomorphic C3 Slow in the patient and a maternal aunt. Serum C3 concentration was significantly reduced in the patient and his mother (610 and 750 micrograms/ml; normal +/- 1 SD = 1,240 +/- 240 micrograms/ml) and was at the lower limits of normal in the affected aunt (770 micrograms/ml). The mother's phenotype was C3 S (? Ss) and she was the presumed carrier, since the father (C3 FS) had neither an abnormal C3 S band nor a low C3 concentration (980 micrograms/ml). Total hemolytic complement was significantly reduced only in the patient (19 units/ml; normal = 38 +/- 16). Hypomorphic C3 variants should be considered in the evaluation of decreased serum C3 levels.

Publication types

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

MeSH terms

  • Alleles*
  • Child, Preschool
  • Complement C3 / deficiency
  • Complement C3 / genetics*
  • Complement System Proteins / deficiency
  • Female
  • Hematuria / genetics*
  • Humans
  • Male
  • Pedigree
  • Phenotype

Substances

  • Complement C3
  • Complement System Proteins