胱氨酸尿症相关基因SLC3A1与SLC7A9突变与药物研究进展  

Research progress on mutations and drugs of cystinuria-related genes SLC3A1 and SLC7A9

作　　者：田淑琳 刘薇[3] 宋岩 Tian Shulin;Liu Wei;Song Yan(Department of Pathology&Laboratory Medicine,Aerospace 731 Hospital,Beijing 100074,China;Department of Laboratory Medicine,Hebei Medical University,Shijiazhuang,Hebei 050031,China;Department of Laboratory Medicine,Chuiyangliu Hospital Afiliated to Tsinghua University,Beijing 100024,China)

机构地区：[1]航天七三一医院病理检验部,北京100074 [2]河北医科大学检验医学学院,河北石家庄050031 [3]清华大学附属垂杨柳医院检验科,北京100024

出　　处：《泌尿外科杂志（电子版）》2024年第4期49-54,共6页Journal of Urology for Clinicians(Electronic Version)

基　　金：北京朝阳科技计划项目(CYSF2201)。

摘　　要：胱氨酸尿症(cystinuria,CSNU)是临床少见遗传病,由溶质载体家族3成员1(solute carrier family3 member 1,SLC3A1)和溶质载体家族7成员9(solute carrier family 7 member 9,SLC7A9)两个基因突变导致。CSNU患者基因突变及基因分型一直备受临床关注,本文针对CSNU相关基因SLC3A1和SLC7A9的遗传突变情况、基因型-表型相关性及近期新药研究进展作一综述。Cystinuria is a rare clinical genetic disease caused by mutations in two hot genes,solute carrier family 3 member 1(SLC3A1)and solute carrier family 7 member 9(SLC7A9).Gene mutation and genotyping of CSNU patients have always attracted clinical attention.This article reviews the genetic mutations,genotype-phenotype correlations,and recent new drug research progress of CSNU-related genes SLC3A1 and SLC7A9.

关 键 词：胱氨酸尿症 SLC3A1 SLC7A9 基因突变 基因型-表型相关性 

分 类 号：R737.25[医药卫生—肿瘤]