关键词: 成人, 激素抵抗肾病综合征, 足细胞相关蛋白, 基因突变分析

Abstract:

ABSTRACT   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.

Key words:  adults   , SRNS   , podocyte-associated protein   , gene mutation analysis