激素耐药型肾病综合征中NPHS2基因研究进展

摘要

Steroid-resistant nephrotic syndrome poses a significant clinical challenge, and a large part will progress to end-stage renal disease,so it was particularly important to further clarify the mechanism of SRNS,it was very important for guiding the clinical genetic screening,diagnosis,treatment and prognosis. In recent years,studies found that podocytes NPHS2 mutations may play an important role in the development of steroid-resistant nephrotic syndrome, NPHS2 gene mutation can lead to podocyte slit diaphragm structural damage,podocin and other podocyte-associated protein abnormal expression,causing a large amount of pro-teinuria,and the development of ESRD ultimately.%激素耐药型肾病综合征病情复杂,临床治疗相当棘手,大部分将进展为终末期肾病,故对该疾病发病机制的进一步阐明对临床基因筛查、诊断、治疗等有重要意义。近年来,相关研究发现足细胞突变基因NPHS2可能在激素耐药型肾病综合征的发生、发展过程中发挥重要作用,NPHS2基因突变可导致肾小球足细胞裂孔隔膜结构破坏,足细胞裂隙膜蛋白( podocin)等足细胞相关蛋白表达异常,引起大量蛋白尿,最终发展至终末期肾病。