遗传性间质性肾炎致病基因研究进展  

Advance in research of pathogenic genes in hereditary tubule-interstitial nephritis

作　　者：乔盼盼[1] 王朝晖[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院肾脏科,上海200025

出　　处：《肾脏病与透析肾移植杂志》2016年第1期57-61,共5页Chinese Journal of Nephrology,Dialysis & Transplantation

基　　金：国家重点基础研究发展计划(973计划)(2012CB5176-04);国家自然科学基金(81170634)

摘　　要：近来遗传性间质性肾炎致病基因的研究取得一些进展,已发现常染色体隐性遗传的肾单位肾痨(NPHP)致病基因20种。另外,改善全球肾脏病预后组织(KDIGO)提出了常染色体显性遗传性肾小管间质性肾病(ADTKD)的新定义及其诊断标准[1],现已发现4种ADTKD的致病基因(MUC1,UMOD,REN,HNF1B)。通过对上述致病基因的研究,探讨其可能导致的病理改变及临床症状,对遗传性间质性肾炎的预防、基因诊断、治疗、预后具有重要意义。Recently,there has been some new research progresses about pathogenic genes of hereditary tubule-interstitial nephritis,which has been confirmed as 20 kinds of pathogenic genes of nephronophthisis. Kidney Disease：Improving Global Outcomes（ KDIGO） proposes adoption of a new terminology ＂Autosomal Dominant Tubulointerstitial Kidney Disease（ ADTKD） ＂ and suggests diagnostic criteria for autosomal dominant tubule-interstitial kidney disease.There has been confirmed as 4 kinds of pathogenic genes of ADTKD（ MUC1,UMOD,REN,HNF1B）. The study of pathogenic genes,pathologic changes and clinical symptoms has great significance for the prevention,gene diagnosis,treatment and prognosis of hereditary tubule- interstitial nephritis.

关 键 词：肾单位肾痨 常染色体显性遗传性肾小管间质性肾病 肾髓质囊性病 致病基因 

分 类 号：R692.3[医药卫生—泌尿科学]