儿童尿崩症病因分析及诊治体会

Analysis of the causes and the experience in diagnosis and treatment of diabetes insipidus in children

目的探讨儿童尿崩症的病因及临床特点。方法选择西安市儿童医院内分泌遗传代谢科收治的58例尿崩症患儿作为研究对象。分析患儿的临床资料、实验室检查结果及诊疗结果。结果尿崩症患儿需行禁水加压素试验、鞍区MRI扫描。中枢性尿崩症54例,肾性尿崩症4例。结论儿童尿崩症的病因以中枢性尿崩症居多。中枢性尿崩症由下丘脑-垂体病变所致,需完善检查明确病因,针对不同病因给予对症治疗,监测患儿生长发育及尿量,改善患儿生活质量。肾性尿崩症多为精氨酸加压素受体2(AVPR2)基因突变引起,临床可完善基因检测,提高其诊断准确度。

Objective To explore the cause and the clinical characteristics of diabetes insipidus in children.Methods A total of 58 children with diabetes insipidus admitted in the endocrinology genetics and metabolism department of Xi’an children’s hospital were selected as the study objects.The clinical data,laboratory examination and diagnosis and treatment results of children were analyzed.Results Children with diabetes insipidus should undergo vasopressin test and MRI scan in sella region.There were 54 cases of central diabetes insipidus and 4 cases of nephrogenic diabetes insipidus.Conclusion The main cause of diabetes insipidus in children is central diabetes insipidus.Central diabetes insipidus is caused by hypothalamic-pituitary diseases,so it is necessary to perfect examination to determine the cause,give symptomatic treatment according to different causes,monitor the growth and development and urine volume,and improve the quality of life of children.Nephrogenic diabetes insipidus is usually caused by gene mutation of arginine vasopressin receptor 2(AVPR2),the accuracy of diagnosis can be improved by can perfecting gene testing in clinic.