草酸钙肾结石相关遗传代谢紊乱的研究进展  

Progress of calcium oxalate kidney stone-related genetic metabolism disorder

作　　者：涂熹 张能 罗旭 Tu Xi;Zhang Neng;Luo Xu(Department of Urology,the Second People’s Hospital of Chengdu,Chengdu Sichuan 610021,China;Department of Urology,theAffiliated Hospital of Zunyi Medical University,Zunyi Guizhou 563099,China)

机构地区：[1]成都市第二人民医院泌尿外科,四川成都610021 [2]遵义医科大学附属医院泌尿外科,贵州遵义563099

出　　处：《遵义医科大学学报》2022年第4期548-553,共6页Journal of Zunyi Medical University

基　　金：国家自然科学基金资助项目(NO:81860524)。

摘　　要：双胞胎和系谱研究表明肾结石有很强的遗传成分。与肾结石形成相关的尿液特征被发现是高度遗传的。现代分子和遗传技术(高通量测序和大型全基因组关联研究等)发现了许多与肾结石相关的新基因,光谱范围从罕见、但高度外显的肾结石(单基因性状)到常见、但表型温和的肾结石(多基因性状)。近年有关基因性尿石症与钙、草酸、枸橼酸代谢障碍相关的遗传学研究较多,本文旨在综合分析其相关性。Twin and genealogical studies have shown that nephrolithiasis has a strong genetic component.Urinary characteristics associated with kidney stone formation have been found to be highly inherited.Modern molecular and genetic techniques,such as high-throughput sequencing and large genome-wide association studies,have revealed many new genes are associated with kidney stones,ranging in spectrum from rare but highly explicit kidney stones(monogenic traits)to common but mild phenotypic kidney stones(polygenic traits).In recent years,genetic urolithiasis is related to metabolic disorders of calcium,oxalic acid and citrate.This paper aimed to comprehensively analyze this correlation.

关 键 词：肾结石 高草酸尿症 高钙尿症 低枸橼酸尿症 遗传基因 

分 类 号：R691.4[医药卫生—泌尿科学]