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.
作者
田淑琳
刘薇
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)
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)。
