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台湾高流行地区特发性膜性肾病的遗传易感性。

Genetic susceptibility to idiopathic membranous nephropathy in high-prevalence Area, Taiwan.

作者信息

Chen Shih-Yin, Chen Cheng-Hsu, Huang Yu-Chuen, Chan Chia-Jung, Chen Da-Chung, Tsai Fuu-Jen

机构信息

Genetics Center, Department of Medical Research, China Medical University Hospital, Taichung, Taiwan ; Graduate Institute of Chinese Medical Science, China Medical University, Taichung, Taiwan ; Department of Biotechnology and Bioinformatics, Asia University, Taichung, Taiwan.

Division of Nephrology, Department of Internal Medicine, Taichung Veterans General Hospital, Taichung, Taiwan.

出版信息

Biomedicine (Taipei). 2014;4(2):9. doi: 10.7603/s40681-014-0009-y. Epub 2014 Aug 6.

Abstract

Idiopathic membranous nephropathy (MN) is one common cause of idiopathic nephrotic syndrome in adults; 25% of MN patients proceed to end-stage renal disease. In adults, membranous nephropathy is a lead cause of nephrotic syndrome, with about 75% of the cases idiopathic. Secondary causes include autoimmune disease, infection, drugs and malignancy. Three hypotheses about pathogenesis have surfaced: preformed immune complex, immune complex formation, and auto-antibody against podocyte membrane antigen. Pathogenesis does involve immune complex formation with later deposition in sub-epithelial sites, but definite mechanism is still unknown. Several genes were recently proven associated with primary membranous nephropathy in Taiwan: and . These may provide a useful tool for diagnosis and prognosis. This article reviews epidemiology and lends new information on (rs443186 and rs447707) polymorphisms as underlying causes of MN; polymorphisms revealed by this study warrant further investigation.

摘要

特发性膜性肾病(MN)是成人特发性肾病综合征的常见病因之一;25%的MN患者会发展为终末期肾病。在成人中,膜性肾病是肾病综合征的主要病因,约75%的病例为特发性。继发性病因包括自身免疫性疾病、感染、药物和恶性肿瘤。关于发病机制出现了三种假说:预先形成的免疫复合物、免疫复合物形成以及针对足细胞膜抗原的自身抗体。发病机制确实涉及免疫复合物的形成,随后沉积于上皮下部位,但确切机制仍不清楚。最近在台湾证实了几个与原发性膜性肾病相关的基因: 和 。这些可能为诊断和预后提供有用的工具。本文综述了流行病学,并提供了关于 (rs443186和rs447707)多态性作为MN潜在病因的新信息;本研究揭示的多态性值得进一步研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f7d4/4441627/eaa79f1a22d2/40681_2014_9_Fig1_HTML.jpg

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