1例以蛋白尿为首诊的儿童Ⅰ型Dent病报道并文献复习  

A Case Report of TypeⅠDent Disease with Proteinuria as the First Diagnosis and Literature Review

作　　者：钱婵 王飞燕 Qian Chan;Wang Feiyan(Children's Hospital of Urumqi First People's Hospital,Xinjiang Urumqi 830000,China)

机构地区：[1]乌鲁木齐市第一人民医院儿童医院,新疆乌鲁木齐830000

出　　处：《儿科药学杂志》2021年第5期30-32,共3页Journal of Pediatric Pharmacy

摘　　要：目的:总结1例以蛋白尿为首诊的Dent病的临床特点,提高儿科临床医师对该病的认识。方法:分析2018年6月我院收治的1例Dent病患儿的诊治过程,并结合国内外相关文献总结该病例的临床特点。结果:患儿经临床诊断后确诊为Dent病,给予枸橼酸钾+氢氯噻嗪口服治疗,并定期检查患儿的肾功能、尿钙及电解质水平,随访至今患儿病情稳定,各项指标良好。结论:Dent病多由CLCN5、OCRL1基因突变引起,主要临床表现为低分子蛋白尿和高钙尿,属于遗传性肾小管疾病,基因诊断对Dent病诊断具有十分重要的意义,早期确诊及行之有效的干预可避免药物滥用,阻止病情的进展及减少肾衰的发生。Objective:To summarize the clinical features of a case of Dent disease with proteinuria as the first diagnosis,so as to improve the awareness of pediatric clinicians on this disease.Methods:The diagnosis and treatment process of a child with Dent disease admitted to our hospital in Jun.2018 was analyzed,and clinical characteristics of the child were summarized in combination with relevant domestic and foreign literature.Results:The child was diagnosed as Dent disease after clinical diagnosis,and was given oral administration of potassium citrate+hydrochlorothiazide.The renal function,urinary calcium and electrolyte levels of the child were checked regularly.After follow-up,the conditions and all indicators of the child were stable.Conclusion:Dent disease is a kind of hereditary renal tubular disease,most of which is induced by CLCN5 and OCRL1 gene mutations.Low molecular weight proteinuria and hypercalciuria are the main clinical manifestations.Genetic diagnosis is meaningful for the diagnosis of the disease.Early diagnosis and effective intervention can avoid drug abuse,prevent the progression of the disease and reduce the incidence of renal failure.

关 键 词：Dent病 遗传性肾小管疾病 基因突变 

分 类 号：R726.9[医药卫生—儿科]