| Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies. | |
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MedLine Citation:
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PMID: 22456601 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Dense deposit disease and glomerulonephritis with isolated C3 deposits are glomerulopathies characterized by deposits of C3 within or along the glomerular basement membrane. Previous studies found a link between dysregulation of the complement alternative pathway and the pathogenesis of these diseases. We analyzed the role of acquired and genetic complement abnormalities in a cohort of 134 patients, of whom 29 have dense deposit disease, 56 have glomerulonephritis with isolated C3 deposits, and 49 have primary membranoproliferative glomerulonephritis type I, with adult and pediatric onset. A total of 53 patients presented with a low C3 level, and 65 were positive for C3 nephritic factor that was significantly more frequently detected in patients with dense deposit disease than in other histological types. Mutations in CFH and CFI genes were identified in 24 patients associated with a C3 nephritic factor in half the cases. We found evidence for complement alternative pathway dysregulation in 26 patients with membranoproliferative glomerulonephritis type I. The complement factor H Y402H variant was significantly increased in dense deposit disease. We identified one at-risk membrane cofactor protein (MCP) haplotype for glomerulonephritis with isolated C3 deposits and membranoproliferative glomerulonephritis type I. Thus, our results suggest a critical role of fluid-phase alternative pathway dysregulation in the pathogenesis of C3 glomerulopathies as well as in immune complex-mediated glomerular diseases. The localization of the C3 deposits may be under the influence of MCP expression.Kidney International advance online publication, 28 March 2012; doi:10.1038/ki.2012.63. |
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Authors:
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Aude Servais; Laure-Hélène Noël; Lubka T Roumenina; Moglie Le Quintrec; Stephanie Ngo; Marie-Agnès Dragon-Durey; Marie-Alice Macher; Julien Zuber; Alexandre Karras; François Provot; Bruno Moulin; Jean-Pierre Grünfeld; Patrick Niaudet; Philippe Lesavre; Véronique Frémeaux-Bacchi |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-3-28 |
Journal Detail:
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Title: Kidney international Volume: - ISSN: 1523-1755 ISO Abbreviation: - Publication Date: 2012 Mar |
Date Detail:
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Created Date: 2012-3-29 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0323470 Medline TA: Kidney Int Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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1] Department of Nephrology, Hôpital Necker-Enfants Malades AP-HP, Paris, France [2] Université Paris Descartes, Paris, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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