遗传相关性泌尿系结石诊治的研究进展  

Diagnosis and treatment of genetically related urinary calculi

作　　者：张文炤 赖龙辉 白培德 王涛[1] 孙安冉 罗雨 朱凯 邢金春[1] 叶章群[3] 陈斌[1] Zhang Wenzhao;Lai Longhui;Bai Peide;Wang Tao;Sun Anran;Luo Yu;Zhu Kai;Xing Jinchun;Ye Zhangqun;Chen Bin(Department of Urology,The First Affiliated Hospital,Xiamen University,Xiamen 361001,China;Department of Surgery(Urology)at the Third Clinical Medical College,Fujian Medical University,Fuzhou 350122,China;Department of Urology,Tongji Medical School,Tongji Hospital,Huazhong University of Science and Technology,Wuhan 430030,China)

机构地区：[1]厦门大学附属第一医院泌尿外科,厦门361001 [2]福建医科大学第三临床医学院,福州350122 [3]华中科技大学同济医学院附属同济医院泌尿外科,武汉430030

出　　处：《中华泌尿外科杂志》2022年第6期477-480,共4页Chinese Journal of Urology

基　　金：国家自然科学基金面上项目(81970604);厦门医疗卫生指导性项目(3502Z20214ZD1007)。

摘　　要：近年来,单基因肾结石疾病发病率逐年升高,随着全基因组学分析和全外显子组测序技术的应用,单基因突变导致泌尿系结石发生发展的病因得到大量的验证。本文通过回顾国内外泌尿系结石相关遗传疾病研究,介绍转运蛋白和通道;离子、质子和氨基酸;钙敏感受体信号通路以及维生素D、草酸盐、胱氨酸、嘌呤和尿酸在遗传相关性泌尿系结石中的作用,总结基因检测在此类疾病中的意义,提高临床医生对遗传相关性泌尿系结石的认识。In recent years,the incidence of single-gene nephrolithiasis has been increasing year by year.With the application of whole-genome analysis and whole-exome sequencing technology,the etiology of single-gene mutations leading to the development of urinary calculi has been extensively verified.Therefore,this article reviews the research on urinary calculi-related genetic diseases at home and abroad,and introduces transport proteins and channels;ions,protons and amino acids.The role of urinary calculi in the majority of clinicians realizes the significance of genetic testing in such diseases,thereby increasing the understanding of genetically related urinary calculi and improving the level of clinical diagnosis and treatment.

关 键 词：肾结石 全基因组学分析 单基因突变 

分 类 号：R691.4[医药卫生—泌尿科学]