Membranoproliferative glomerulonephritis with C3NeF and genetic complement dysregulation

Pediatr Nephrol. 2011 Mar;26(3):419-24. doi: 10.1007/s00467-010-1734-4. Epub 2010 Dec 25.

Abstract

The development of membranoproliferative glomerulonephritis (MPGN) is associated with uncontrolled activation of the complement alternative pathway. This dysregulation is related either to C3 nephritic factor (C3NeF), an auto-antibody directed against the alternative C3 convertase, or to homozygous loss-of-function mutation of the complement regulatory protein factor H. Heterozygous mutations in the genes coding for factor H, or for the other alternative pathway inhibitory proteins factor I and membrane cofactor protein, have recently been identified in a small number of patients with MPGN with exclusive C3 deposits. We report three hypocomplementemic children with dense deposit disease (n=1) or immune-complex-mediated MPGN type I (n=2), associated with both C3NeF activity and heterozygous mutation of factor H or factor I. These observations highlight the possible combination of genetic and acquired defect in complement control in various subtypes of MPGN, a finding that may influence the treatment strategy in some patients.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Biopsy
  • Child
  • Child, Preschool
  • Complement C3 Nephritic Factor / analysis*
  • Complement Factor H / genetics
  • Complement Factor I / genetics*
  • Genetic Predisposition to Disease
  • Glomerulonephritis, Membranoproliferative / drug therapy
  • Glomerulonephritis, Membranoproliferative / genetics*
  • Glomerulonephritis, Membranoproliferative / immunology*
  • Glomerulonephritis, Membranoproliferative / pathology
  • Heterozygote
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Kidney / drug effects
  • Kidney / immunology*
  • Kidney / pathology
  • Male
  • Mutation
  • Phenotype
  • Time Factors
  • Treatment Outcome

Substances

  • CFH protein, human
  • Complement C3 Nephritic Factor
  • Immunosuppressive Agents
  • Complement Factor H
  • CFI protein, human
  • Complement Factor I