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Heterogeneous pattern of renal disease associated with homozygous Factor H deficiency.
MedLine Citation:
PMID:  21396679     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
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:
Type:  JOURNAL ARTICLE     Date:  2011-3-9
Journal Detail:
Title:  Human pathology     Volume:  -     ISSN:  1532-8392     ISO Abbreviation:  -     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-3-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9421547     Medline TA:  Hum Pathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2010 Elsevier Inc. All rights reserved.
Affiliation:
Department of Nephrology, Hôpital Necker-Enfants Malades AP-HP, Paris 75015, France; Université Paris Descartes, Paris 75006, France.
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