| Heterogeneous pattern of renal disease associated with homozygous Factor H deficiency. | |
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MedLine Citation:
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PMID: 21396679 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Membranoproliferative glomerulonephritis type II is a rare renal disease, associated with uncontrolled activation of the complement alternative pathway because of C3 nephritic factor. Abnormalities in factor H have been rarely described in patients with membranoproliferative glomerulonephritis type II. We report the clinical history, molecular defect, and histologic description of 3 patients with factor H deficiency and various types of membranoproliferative glomerulonephritis. The 3 patients presented with severely decreased C3. Circulating factor H was undetectable. Complete factor H deficiency (CFH) was due to homozygous complement factor H mutations in short consesus repeat (SCR) 7, 10, and 11. Age at onset was 1 (patient 1), 17 (patient 2), and 33 years (patient 3). Symptoms at diagnosis included proteinuria of 0.5, 2.4, and 11 g/d, respectively, microhematuria, and normal renal function in all cases. The estimated glomerular filtration rate at last follow-up was 25, 43, and 112 mL/min per 1.73 m(2), at ages of 29, 24, and 37 years, respectively. Renal biopsies disclosed a membranoproliferative glomerulonephritis type II with atypical discontinuous dense deposits in patient 1; a membranoproliferative glomerulonephritis type I with immunoglobin G (IgG), C1q, and abundant C3 deposits in patient 2; and a membranoproliferative glomerulonephritis with isolated C3 deposits without dense deposits in patient 3. This report of factor H-deficient patients emphasizes the diversity of the histologic lesions associated with factor H deficiencies and the role of the alternative pathway in several subtypes of membranoproliferative glomerulonephritis. |
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Authors:
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Aude Servais; Laure-Hélène Noël; Marie-Agnes Dragon-Durey; Marie-Claire Gübler; Philippe Rémy; David Buob; Carole Cordonnier; Raïfah Makdassi; Waddah Jaber; Eric Boulanger; Philippe Lesavre; Véronique Frémeaux-Bacchi |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-3-9 |
Journal Detail:
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Title: Human pathology Volume: - ISSN: 1532-8392 ISO Abbreviation: - Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-3-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9421547 Medline TA: Hum Pathol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2010 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Nephrology, Hôpital Necker-Enfants Malades AP-HP, Paris 75015, France; Université Paris Descartes, Paris 75006, France. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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