Membranoproliferative glomerulonephritis with C3NeF and genetic complement dysregulation |
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Authors: | Val��rie Leroy V��ronique Fremeaux-Bacchi Michel Peuchmaur V��ronique Baudouin Georges Desch��nes Marie-Alice Macher Chantal Loirat |
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Affiliation: | (1) Pediatric Nephrology Department, Universit? Paris 7, H?pital Robert Debr?, Paris, France;(2) Biological Immunology Department, H?pital Europ?en Georges Pompidou, Paris, France;(3) Department of Anatomopathology, Universit? Paris 7, H?pital Robert Debr?, Paris, France;(4) Service de N?phrologie, H?pital Robert Debr?, 48 boulevard S?rurier, 75019 Paris, France |
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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. |
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