摘要肾单位肾痨(nephronophthisis,NPHP)是一种常染色体隐性遗传的囊性肾病,目前发现22种NPHP致病基因(NPHP1-20、NPHPL1、NPHPL2),以影响初级纤毛结构或功能为主;并通过参与Hh、Wnt、Hippo、DDR等相关信号通路,介导疾病发生发展.寻找肾单位肾痨致病基因,探究可能的致病机制,对肾单位肾痨预防、诊断、治疗、预后、遗传咨询等有重要意义.

abstractsNephronophthisis(NPHP),an autosomal recessive cystic kidney disease,is the most frequent genetic cause for end stage renal failure in the first thirty years of life.NPHP can be caused by Mutations in 22 genes(NPHP1-20,NPHPL1,NPHPL2),with abnormal structure or function of primary cilia,involved in Hh,Wnt,Hippo,DDR signaling pathways.Elucidating the pathogenic genes and possible pathogenesis would make a difference in prevention,diagnosis,treatment,prognosis,and genetic counseling of NPHP.This article reviews the pathogenic genetics and related signaling pathways.