成人激素抵抗性肾病综合征遗传学机制  

The genetic basis of adult-onset steroid resistant nephrotic syndrome

作　　者：周琼秀[1] 陈楠[1] 

机构地区：[1]上海交通大学附属瑞金医院肾脏科,上海200051

出　　处：《肾脏病与透析肾移植杂志》2013年第1期70-74,共5页Chinese Journal of Nephrology,Dialysis & Transplantation

摘　　要：激素抵抗性肾病综合征(SRNS)为难治性肾病综合征,常发展至终末期肾病,但其发病机制尚不明确。近年来,越来越多的证据表明编码足细胞相关蛋白的基因变异是部分SRNS的病因。最早足细胞相关蛋白基因变异仅见于家族性及儿童散发SRNS,但近来发现这些基因变异也与成人散发SRNS相关。本文系统性综述当前发现与成人SRNS相关的6个主要足细胞相关蛋白基因,旨在阐明成人SRNS遗传机制,为干预疾病进展、促进临床诊断及治疗提供理论依据。As a refractory nephrotic syndrome, steroid-resistant nephrotic syndrome, often develop to ESRD, but its etiology has been unknown. In recent years, more and more evidence suggests that gene mutation of podocyte-associated protein be the cause of some SRNS. At the beginning, podoeyte-associated protein gene mutation was found only in family and child-onset sporadic SRNS, but recently we have reported that these gene variants were also associated with sporadic adults SRNS. In order to provide a theoretical basis for the elucidation of the genetic mechanisms and further interfering with disease progression, promoting clinical diagnosis and treatment,6 major podocyte-associated protein genes and their disease-causing mutations,which are closely related to adult-onset sporadic SRNS, are systematically reviewed.

关 键 词：激素抵抗性肾病综合征 足细胞相关蛋白 基因突变分析 

分 类 号：R692.3[医药卫生—泌尿科学]