论文部分内容阅读
激素耐药型肾病综合征(steroid resistant nephrotic syndrome，SRNS)通常为足细胞功能异常所导致，是儿童终末期肾脏病的常见病因之一。遗传因素所致足细胞结构或功能缺陷是引发SRNS的重要病因之一，大约43%的遗传性SRNS是由单基因突变引起的，已报道致病的单基因多达50种。核孔蛋白93(nucleoprin93，NUP93)基因突变最近被证实是遗传性SRNS的病因之一，其通过影响足细胞核孔蛋白复合体的组装或干扰骨形态发生蛋白7(bone morphogenetic protein 7，BMP7)介导的SMAD信号传导，导致遗传性SRNS。“,”Steroid-resistant nephrotic syndrome(SRNS)is usually caused by abnormal podocyte function, which is one of the common causes of end-stage renal disease in children.Structural or functional defects of podocytes caused by genetic factors is one of the important causes of SRNS.About 43% of hereditary SRNS is caused by single gene mutations, and as many as 50 single genes have been reported.Nucleoprin 93(NUP93)gene mutation has recently been confirmed to be one of the causes of hereditary SRNS, which leads to hereditary SRNS by affecting the assembly of podocyte nuclear porin complex or interfering with BMP7-mediated SMAD signal transduction.