Membranoproliferative glomerulonephritis with C3NeF and genetic complement dysregulation

作者：Leroy Valerie^*; Fremeaux Bacchi Veronique; Peuchmaur Michel; Baudouin Veronique; Deschenes Georges; Macher Marie Alice; Loirat Chantal

来源：Pediatric Nephrology, 2011, 26(3): 419-424.

DOI：10.1007/s00467-010-1734-4

• Membranoproliferative glomerulonephritis type I
• Dense deposit disease
• Complement alternative pathway
• C3 nephritic factor
• Factor H
• Factor I

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.

• 出版日期2011-3