Association of a novel complement factor H mutation with severe crescentic and necrotizing glomerulonephritis.
Association of a novel complement factor H mutation with severe crescentic and necrotizing glomerulonephritis.
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新型补体因子H突变与严重的新月形和坏死性肾小球肾炎的关联。
DOI：
10.1053/j.ajkd.2012.03.007
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发表时间：
2012-07
期刊：
影响因子：
--
通讯作者：
Sethi S
中科院分区：
文献类型：
--
作者：
Fervenza FC;Smith RJ;Sethi S
Severe crescentic and necrotizing glomerulonephritis is typically associated with anti-glomerular basement membrane (anti-GBM) antibodies or anti-neutrophil cytoplasmic antibodies (ANCA). In this report, we describe a 23-year old man with severe crescentic and necrotizing glomerulonephritis. Both anti-GBM and ANCA titers were negative. Kidney biopsy showed bright C3 staining in the mesangium and along capillary walls and no staining for immunoglobulins. Electron microscopy showed waxy deposits (many mesangial; few intramembranous or subendothelial), prompting an evaluation of the alternative pathway of complement. alternative pathway evaluation revealed a novel mutation in short consensus repeat (SCR) 19 of complement factor H (CFH). In addition, the patient carried CFH and C3 risk alleles. Prompt treatment with intravenous steroids followed by oral steroids resulted in symptom alleviation and improved kidney function This case shows what is to our knowledge a unique and previously unpublished cause of severe crescentic and necrotizing glomerulonephritis. Furthermore, the case demonstrates an expanding spectrum of complement-mediated glomerulonephritis and shows that crescentic and necrotizing glomerulonephritis with solely complement deposits should be evaluated for abnormalities in the alternative pathway of complement.
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影响因子：
4
作者：
Servais, Aude;Fremeaux-Bacchi, Veronique;Fakhouri, Fadi
通讯作者：
Fakhouri, Fadi
影响因子：
19.6
作者：
通讯作者：
--
影响因子：
13.6
作者：
Smith, Richard J. H.;Alexander, Jessy;Zipfel, Peter F.
通讯作者：
Zipfel, Peter F.
影响因子：
19.6
作者：
Sethi, Sanjeev;Gamez, Jeffrey D.;Vrana, Julie A.;Theis, Jason D.;Bergen, H. Robert, III;Zipfel, Peter F.;Dogan, Ahmet;Smith, Richard J. H.
通讯作者：
Smith, Richard J. H.
DOI：
10.2215/cjn.07110810
发表时间：
2011-05-01
影响因子：
9.8
作者：
Sethi, Sanjeev;Fervenza, Fernando C.;Smith, Richard. H.
通讯作者：
Smith, Richard. H.