Factor H and the pathogenesis of renal diseases

Pediatr Nephrol. 2000 Sep;14(10-11):1045-53. doi: 10.1007/s004670050069.

Abstract

Complement factor H is a potent inhibitor of alternative pathway complement activation. The factor H gene, a member of the regulators of complement activation (RCA) gene cluster, encodes two plasma proteins, one 150 kilodaltons (kDa) and one 43 kDa. Homozygous deficiency of factor H results in low plasma levels of complement factor B and C3 and depletion of the terminal complement proteins C5-C9; heterozygotes may have reduced or normal levels of factor B, C3, and C5-C9. Although factor H deficiency is infrequently reported, it has been associated with a number of types of renal disease, the most common being atypical membranoproliferative glomerulonephritis and idiopathic (non-diarrhea-associated) hemolytic uremic syndrome (HUS). The molecular defects responsible for factor H deficiency have been described in only two cases; clearly more research is needed in this area. The possible role of factor H deficiency or dysfunction in the pathogenesis of HUS is discussed.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Complement Factor H / deficiency*
  • Complement Factor H / genetics*
  • Complement Factor H / physiology
  • Glomerulonephritis, Membranoproliferative / genetics
  • Hemolytic-Uremic Syndrome / genetics
  • Hemolytic-Uremic Syndrome / microbiology
  • Humans
  • Kidney Diseases / genetics*
  • Pneumococcal Infections

Substances

  • complement factor H, human
  • Complement Factor H