中华实用儿科临床杂志
中華實用兒科臨床雜誌
중화실용인과림상잡지
Journal of Applied Clinical Pediatrics
2015年
17期
1285-1289
,共5页
肾小管疾病,遗传性%儿童%诊断%治疗
腎小管疾病,遺傳性%兒童%診斷%治療
신소관질병,유전성%인동%진단%치료
Renal tubular disease,inherited%Child%Diagnosis%Treatment
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.
遺傳性腎髒病(inherited kidney diseases)包含遺傳性腎小毬疾病、遺傳性腎小管和囊腫性疾病等.其髮病率相對較低,但種類繁多,臨床對該類疾病目前認識不足,檢驗手段尚不規範,容易造成漏診和誤診.作為遺傳性腎髒病之一的先天/遺傳性腎小管疾病常見的臨床錶現主要為低鉀血癥、腎結石、多飲、多尿、生長髮育落後等,不及時治療會損傷腎功能.因此,臨床醫師需重視先天/遺傳性腎小管疾病的診斷,從而早期榦預.
유전성신장병(inherited kidney diseases)포함유전성신소구질병、유전성신소관화낭종성질병등.기발병솔상대교저,단충류번다,림상대해류질병목전인식불족,검험수단상불규범,용역조성루진화오진.작위유전성신장병지일적선천/유전성신소관질병상견적림상표현주요위저갑혈증、신결석、다음、다뇨、생장발육락후등,불급시치료회손상신공능.인차,림상의사수중시선천/유전성신소관질병적진단,종이조기간예.
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/hereditary 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.