高钙尿性肾结石相关遗传性疾病研究进展  

Genetics of hypercalciuric stone forming diseases

作　　者：王冠怡 李胜[1] 李刚[1] 刘同族[1] 徐华 Wang Guanyi;Li Sheng;Li Gang;Liu Tongzu;Xu Hua(Department of Urology and Biological Repositories,Tumor Precision Diagnosis and Treatment Technology and Translational Medicine,Hubei Engineering Research Center,Zhongnan Hospital of Wuhan University,Wuhan 430071,China)

机构地区：[1]武汉大学中南医院泌尿外科,武汉大学中南医院生物样本库,肿瘤精准诊疗技术与转化医学湖北省工程研究中心,武汉430071

出　　处：《中华泌尿外科杂志》2022年第5期393-396,共4页Chinese Journal of Urology

基　　金：国家自然科学基金面上项目(82070726)。

摘　　要：高钙尿症作为肾结石中常见临床特征,是特发性高钙尿症、常染色体显性低钙血症、Bartter综合征、Dent病、遗传性低磷血症性佝偻病伴高钙尿症、婴儿高钙血症、家族性低镁血症伴高钙尿症和肾钙质沉着症、遗传性远端肾小管酸中毒等遗传性疾病的共性表征,然而这些高钙尿性肾结石相关遗传性疾病的临床表现和基因型有各自特点。本文通过系统综述其遗传学研究新进展,便于临床早期筛查和诊断,并采取合理干预措施。Hypercalciuria,as a common clinical feature of kidney stones,is a common feature of hereditary diseases such as idiopathic hypercalciuria,autosomal dominant hypocalcaemia,Bartter's syndrome,Dent disease,hereditary hypophosphataemic rickets with hypercalciuria,infantile hypercalcaemia,familial hypomagnesemia with hypercalciuria and nephrocalcinosis,hereditary distal renal tubular acidosis,However,the clinical phenotypes and genotypes of these hypercalciuric kidney stones have their own characteristics.We summarized the results of recent genetic studies on hypercalciuria to promote clinical screening,diagnosis and reasonable treatment.

关 键 词：肾结石 高钙尿症 遗传 系统综述 

分 类 号：R692.4[医药卫生—泌尿科学]