足细胞相关突变基因致激素耐药型肾病综合征的机制研究进展

Recent advances in the research on mechanisms underlying podocyte-specific gene mutation-related steroid-resistant nephrotic syndrome

摘要:

激素耐药型肾病综合征的治疗十分棘手，其发病机制尚未完全阐明。近年来，相关研究发现一些足细胞突变基因可能在激素耐药型肾病综合征病例的发病过程中起到了重要作用，研究较为深入的突变基因有NPHS2、NPHS1、WT1、TRPC6、MDR-1、PLCE1、LMX1B、LAMB2等，本文就以上突变基因的致病特性加以概述，以期为早期明确肾病类型并采取正确治疗措施，同时对预后判断和产前诊断提供帮助。

Abstract:

Steroid-resistant nephrotic syndrome poses a significant clinical challenge. Its pathogenesis has not been fully elucidated. In recent years, numerous studies have shown that podocyte-specific gene mutations may play important roles in the development of steroid-resistant nephrotic syndrome. Among the identified genes mutated in podocytes include NPHS2, NPHS1, WT1, TRPC6, MDR1, PLCE1, LMX1B, and LAMB2. This review aims to summarize the characteristics of these mutated genes in podocytes. The putative role for these podocyte-specific mutated genes in the pathogenesis, diagnosis, treatment and prognosis of steroid-resistant nephrotic syndrome is also discussed.