激素耐药型肾病综合征中NPHS2基因研究进展

Research Progress on NPHS2 gene of Steroid-resistant Nephrotic Syndrome

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,故阐明该疾病发病机制对临床基因筛查、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。

Steroid-resistant nephrotie syndrome （SRNS） poses a significant clinical challenge, and a large portion of the cases will progress to end-stage renal disease （ ESRD）, so it is particularly important to further clarify the mechanism of SRNS 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 ,because NPHS2 gene mutation can lead to podocyte slit diaphragm structural damage, abnormal expression of podocin and other podocyte-associated protein, causing a large amount of proteinuria. and the development of ESRD ultimately.