Progress in genetics of NPHP related signaling pathway / 国际儿科学杂志

ABSTRACT

Nephronophthisis(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.