遗传性肾小管疾病诊治思路  

Diagnosis and treatment of inherited renal tubular disease

作　　者：任红[1] 陈楠[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院肾脏科,上海200025

出　　处：《中国实用内科杂志》2014年第3期227-230,共4页Chinese Journal of Practical Internal Medicine

基　　金：国家重点基础研究发展计划(2012CB517604);国家自然基金项目(81070560;81070568;81000295;81200488);国家临床重点专科建设项目

摘　　要：临床对遗传性肾小管疾病认识不足,造成大量漏误诊。遗传性肾小管疾病常见的有Gitelman综合征、Bartter综合征、Liddle综合征、胱氨酸尿、遗传性肾小管性酸中毒、Dent's病等。遗传性肾小管疾病常见的临床表现主要有低血钾、肾结石等,长期不治疗会损伤肾功能。因此临床医生要重视遗传性肾小管疾病的诊断,早期干预。Inherited renal tubular disease is not extensively understood by clinicians, resulting in misdiagnosis and missed diagnosis of many cases. Gitelman syndrome, Banter syndrome, Liddle syndrome, Sulfocysteinuria, inherited renal tubular ac- idosis and Dent＇s disease are common inherited renal tubular diseases, which often present with hypokalemia and kidney stone, and may develop renal failure without treatment. Therefore, clinicians should pay special attention to the diagnosis of these diseases and early interventions are recommended.

关 键 词：肾小管疾病 遗传性 低血钾 肾结石 

分 类 号：R692.6[医药卫生—泌尿科学]