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      Membranoproliferative glomerulonephritis with C3NeF and genetic complement dysregulation.

      Pediatric Nephrology (Berlin, Germany)

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

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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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          Journal
          10.1007/s00467-010-1734-4
          21188423

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