Factor H and the pathogenesis of renal diseases.
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.
Ault
B H
BH
Department of Pediatrics, University of Tennessee, Memphis, USA.
D017242:Complement Factor H / Q000172:deficiency* / Q000235:genetics* / Q000502:physiology; D015432:Glomerulonephritis, Membranoproliferative / Q000235:genetics; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics / Q000382:microbiology; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D011008:Pneumococcal Infections
C493495:CFH protein, human; D017242:Complement Factor H