儿童先天/遗传性肾小管疾病诊断与治疗现状  

Diagnosis and treatment of congenital/inherited renal tubular diseases in children

作　　者：黄文彦[1,2] 孙蕾[1,2] 

机构地区：[1]上海市儿童医院,200062 [2]上海交通大学附属儿童医院肾脏风湿科

出　　处：《中华实用儿科临床杂志》2015年第17期1285-1289,共5页Chinese Journal of Applied Clinical Pediatrics

摘　　要：遗传性肾脏病（inherited kidney diseases）包含遗传性肾小球疾病、遗传性肾小管和囊肿性疾病等。其发病率相对较低，但种类繁多，临床对该类疾病目前认识不足，检验手段尚不规范，容易造成漏诊和误诊。作为遗传性肾脏病之一的先天／遗传性肾小管疾病常见的临床表现主要为低钾血症、肾结石、多饮、多尿、生长发育落后等，不及时治疗会损伤肾功能。因此，临床医师需重视先天／遗传性肾小管疾病的诊断，从而早期干预。Hereditary renal diseases （inherited kidney diseases） include glomerular diseases,tubular diseases and cystic diseases. The incidence of inherited kidney diseases is relatively low, but the variety of clinical insufficient understanding of the disease, the means test about inherited kidney diseases is also not standardized, easily lead to missed diagnosis and misdiagnosis. As the common clinical manifestation of hereditary renal disease and congenital/he- reditary renal disease are mainly low blood potassium, kidney stones, polyuria, growth retardation, and may develop renal failure without treatment. Therefore, clinicians should pay special attention to the diagnosis of congenital/hereditary renal disease, and early interventions are recommended.

关 键 词：肾小管疾病 遗传性 儿童 诊断 治疗 

分 类 号：R726.9[医药卫生—儿科]