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, podocyte-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.
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