肾小管疾病的早期诊断  

Early diagnosis of renal tubular diseases

作　　者：王晶晶[1] 毛建华[1] 

机构地区：[1]浙江大学医学院附属儿童医院肾内科,浙江杭州310006

出　　处：《中国实用儿科杂志》2018年第2期113-117,共5页Chinese Journal of Practical Pediatrics

摘　　要：遗传性肾小管疾病起病隐匿,发病率较低,临床对这类疾病认识往往有所不足,检验手段尚不规范,容易造成漏诊、误诊。遗传性肾小管疾病常见的临床表现主要为低钾血症、高钙尿症、多饮多尿、佝偻病、生长发育落后等,如不及时治疗,一旦出现肾功能受累,可进展至晚期,病损呈不可逆性改变。文章重点介绍部分常见的遗传性肾小管疾病,强调详细询问病史、重视肾小管功能系列的实验室检查以及与高钙尿症相关的肾小管疾病的诊断思路。临床医师需重视肾小管疾病的早期诊断,从而早期干预,改善预后。Hereditary renal tubular disease is insidious and the incidence is relatively low. Renal tubular disease is easy to be overlooked or misdiagnosed due to lack of specific clinical manifestation. The most common clinical manifestations of he- reditary renal tubular are hypokalemia, hypercalciuria, polyuria, rickets, and growth retardation. If it is not timely treated, once the renal involvement happened, renal function impair- ment is generally inconvertible. Therefore, we should pay more attention to the early diagnosis of renal tubular diseases. In order to make early diagnosis, emphasis should be attached to the detailed history, the laboratory examination of renal tubular function series, and the diagnosis clues to hypercaleiuria-related renal tubular diseases,It＇s necessary for clinical physicians to pay attention to the early diagnosis of tubular diseases in order to perform early intervention and improve prognosis.

关 键 词：肾小管疾病 儿童 遗传 诊断 

分 类 号：R72[医药卫生—儿科]