单基因肾钙质沉着症的研究进展  

Research progress of monogenic nephrocalcinosis

作　　者：詹睿超 葛玉成 王文营[1] Zhan Ruichao;Ge Yucheng;Wang Wenying(Department of Urology,Beijing Friendship Hspital,Capinl Medical Uniersiy,Being 100050,Chinn)

机构地区：[1]首都医科大学附属北京友谊医院泌尿外科,100050

出　　处：《国际外科学杂志》2021年第3期211-216,共6页International Journal of Surgery

基　　金：北京市科学技术委员会-首都特色临床应用研究(Z18110001718173);北京市医院管理中心临床医学发展专项经费资助(XMLX202101)。

摘　　要：肾钙质沉着症常与肾结石病伴发,近年来越来越多的肾钙质沉着症被发现是由单基因病所致,其发病机制尚未完全闸明。随着分子遗传学的发展,已发现30多种基因是肾钙质沉着症的致病基因。同时,随者基因检测技术的广泛开展.更多的患者得到了早期诊断和及时干预。现就单基因肾钙质沉着症的临床和基础研究进展进行综述。Nephoealcimosis is ofen acompanied by kidney stone disease,In recent years.more and more nephrocaleinwosis has been found to be caused bhy a monogenie disease,and its pathogenesis has not been fully elucidated.With the development of moleeular genetics.more than 30 genes have been founud to be the eausative genes of nephroealeinosis.Al the same time.with the widespread development of genetice lesting technology,more patients have received early diagnosis and timely intervention.This article reviews the clinical and basie researeh progress of monogenie nephrocealeinwsis.

关 键 词：基因型 单基因 肾钙质沉着症 

分 类 号：R692[医药卫生—泌尿科学]