肾单位肾痨分子遗传和病理生理研究进展  

Advances in molecular genetics and pathophysiology of nephronophthisis

作　　者：邵慧瑛(综述) 安玉(审校) SHAO Huiying;AN Yu(National Clinical Research Center for Kidney Diseases,Jinling Hospital,Affiliated Hospital of Medical School,Nanjing University,Nanjing 210016,China)

机构地区：[1]南京大学医学院附属金陵医院(东部战区总医院)国家肾脏疾病临床医学研究中心,南京210016

出　　处：《肾脏病与透析肾移植杂志》2024年第5期463-468,共6页Chinese Journal of Nephrology,Dialysis & Transplantation

基　　金：东部战区总医院科技创新研究计划(2023LCYYQH029)。

摘　　要：肾单位肾痨是一类由纤毛基因突变引起的常染色体隐性遗传的肾小管间质疾病,也是引起儿童和青少年肾衰竭常见的遗传病因。临床表现为肾脏浓缩功能下降、慢性间质性肾炎、囊性肾病,部分可伴肾外表现。近年来随着分子生物学技术的发展,对该病致病基因和相关信号通路调控异常的研究取得了较大进展,也为此类患者的个体化治疗带来希望。本文就肾单位肾痨的致病基因、发病机制和治疗进展作一综述。Nephronophthisis is an autosomal recessive tubulointerstitial disorder caused by mutations in ciliary genes and a common genetic cause of renal failure in children and adolescents.Clinical manifestations include decreased renal concentrating function,chronic interstitial nephritis,cystic kidney disease,with or without extrarenal manifestations.In recent years,along with the development of molecular biology technology,great progress has been made in understanding its genetic background and related signaling pathways,which also brings hope for individualized treatment of such patients.This article reviewed the pathogenic genes,pathogenesis,and treatment progress of nephronophthisis.

关 键 词：肾单位肾痨 遗传性肾脏病 肾间质损害 肾小管疾病 

分 类 号：R692[医药卫生—泌尿科学]