儿童肾小管疾病诊治现状及早期识别  

The current management and early diagnosis of renal tubular diseases in children

作　　者：黄文彦 康郁林[1] HUANG Wenyan;KANG Yulin(Department of Nephrology and Rheumatology,Shanghai Children’s Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200062,China)

机构地区：[1]上海市儿童医院上海交通大学医学院附属儿童医院肾脏风湿科,上海200062

出　　处：《临床儿科杂志》2022年第12期881-885,共5页Journal of Clinical Pediatrics

基　　金：国家自然科学基金面上项目(No.82170683);上海市自然科学基金面上项目(No.19ZR1442300)。

摘　　要：肾小管疾病是由各种原发和/或继发因素导致肾小管结构、功能及细胞代谢异常的一类疾病。目前尚无公认的肾小管疾病归类方法,作者根据疾病的病程、病因、累及部位、物质转运障碍类型以及人类基因组组织的统一命名进行初步分类。统一规范的分类有助于肾小管疾病的临床诊治。由于儿童肾小管疾病临床表现多样化,缺乏特异性症状,疾病呈现缓慢进展状态,实验室检测手段有限,迄今对该类疾病认识不足,在临床上易误诊误治,因此早期识别至关重要。肾小管疾病早期诊断依赖于病史的详细询问、临床症状与体征的细致观察、实验室和影像学及基因的精准检查等。多学科合作诊治有利于改善肾小管疾病的预后。Renal tubule disease is a kind of disease caused by various primary and/or secondary factors,which leads to abnormal structure,function and cell metabolism of the renal tubule.To date,there is no consensus on the classification of renal tubular diseases.We preliminarily classify renal tubular diseases according to their course,causes,involved sites,types of substance transport disorder,and the unified name of human genome organization.A unified and standardized classification is helpful for clinical diagnosis and treatment of renal tubular diseases.Due to the diversity of its clinical manifestations in children,the lack of specific symptoms,the slow progress of the disease,and the limited laboratory diagnostic methods,the lack of understanding of such diseases,misdiagnosis and mistreatment occur frequently in clinic.Thus,early recognition of renal tubular diseases is crucial.The early diagnosis of renal tubular diseases depends on the detailed inquiry of medical history,careful observation of clinical symptoms and signs,and the data of relevant laboratory,imaging examinations and genetic analysis.In addition,multidisciplinary cooperation is valuable to improve the prognosis of renal tubular diseases.

关 键 词：肾小管疾病 诊断和治疗 基因检测 儿童 

分 类 号：R726.9[医药卫生—儿科]