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膜性肾病发生发展及病程的遗传决定因素

Genetic determinants of the development and course of membranous nephropathy.

作者信息

Kamyshova E S, Bobkova I N, Gorelova I A, Каkhsurueva P A, Filatova E E

机构信息

I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University), Moscow, Russia.

出版信息

Ter Arkh. 2018 Jun 20;90(6):105-111. doi: 10.26442/terarkh2018906105-111.

Abstract

Membranous nephropathy (MN) is one of the most common causes of nephrotic syndrome in adults and is classified as either primary (idiopatic) or secondary MN according to underlying etiology (the later result from some known disease such as systemic autoimmune diseases, infections, malignancies, drugs, etc). In recent years, phospholipase A2 receptor 1 (PLA2R) and thrombospondin type-1 domain-containing 7A (THSD7A) were identified as two major podocytic antigens involved in the pathogenesis of idiopatic MN (IMN). And the discovery of circulating antibodies specific for these target antigens has transformed the diagnostic workup and significally improved management of IMN. However why do such antibodies develop is not conclusively established. The role of underlying genetic factors is discussed. The review presents the results of recent studies, that have shown significant associations of specific genetic factors (particularly human leucocyte antigen class II and PLA2R1 genes) with IMN.

摘要

膜性肾病(MN)是成人肾病综合征最常见的病因之一,根据潜在病因可分为原发性(特发性)或继发性MN(后者由某些已知疾病引起,如系统性自身免疫性疾病、感染、恶性肿瘤、药物等)。近年来,磷脂酶A2受体1(PLA2R)和含血小板反应蛋白1型结构域7A(THSD7A)被确定为参与特发性MN(IMN)发病机制的两种主要足细胞抗原。针对这些靶抗原的循环抗体的发现改变了诊断检查,并显著改善了IMN的管理。然而,这些抗体为何产生尚未最终确定。文中讨论了潜在遗传因素的作用。本综述展示了近期研究的结果,这些研究表明特定遗传因素(特别是人类白细胞抗原II类和PLA2R1基因)与IMN之间存在显著关联。

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