儿童先天性肾性尿崩症18例临床特征分析

Clinical characteristics of 18 children with congenital nephrogenic diabetes insipidus

目的探讨儿童先天性肾性尿崩症(congenital nephrogenic diabetes insipidus,CNDI)的临床特征,提高该病的诊治水平。方法回顾分析中国医科大学附属盛京医院2012年1月至2021年12月收治的18例CNDI患儿的临床特征、实验室检查、影像学表现、禁水-加压素试验结果、基因检测及治疗效果。结果18例患儿中男性占94.4%(17例);年龄7月龄至7岁,均在2岁以内发病。多数有多饮多尿症状,1岁以内就诊的3例症状缺乏特异性,表现为厌食、恶心呕吐、体重增长缓慢和间断发热,且伴有严重的高钠血症。14例(77.8%)身材矮小;4例(22.2%)有双肾积水;5例(27.8%)垂体增强磁共振成像提示垂体后叶高信号消失或未见确切显示;5例行基因检测,均为AVPR2基因突变;全部患儿用氢氯噻嗪治疗显示部分有效。结论CNDI多自幼发病,婴幼儿患者症状可不典型。对厌食、恶心呕吐、便秘、身高及体重增长缓慢、间断发热的患儿,应仔细记录其饮水量和尿量,反复测尿相对密度,必要时行禁水-加压素试验及基因检测以明确诊断,尽早治疗,避免影响患儿的生长发育及出现泌尿系积水和肾功能损伤。

Objective To explore the clinical characteristics of congenital nephrogenic diabetes insipidus(CNDI)in children and improve the ability of diagnosis and treatment.Methods The clinical characteristics,laboratory examination,imaging findings,water deprivation vasopressin test results,gene detection and treatment effects of 18 children with CNDI admitted to Shengjing Hospital of China Medical University from January 2012 to December 2021 were retrospectively analyzed.Results Among the patients with CNDI,94.4%(17 cases)were male.The age ranged from 7 months to 7 years old,and they all developed within 2 years old.Most of them had symptoms of polydipsia and polyuria.The symptoms of 3 cases less than 1 year old were nonspecific,manifested as anorexia,nausea and vomiting,slow weight gain and intermittent fever,accompanied by severe hypernatremia as well.There were 14 cases(77.8%)of short stature and 4 cases(22.2%)had hydronephrosis.In 5 cases(27.8%),pituitary enhanced magnetic resonance imaging(MRI)showed that the high signal intensity of posterior pituitary disappeared or did not show clearly.Five cases underwent gene detection,and all of them were AVPR2 gene mutation.All patients were treated with hydrochlorothiazide,which was effective in some patients.Conclusion Most cases of CNDI occur at young age,and the symptoms of infants are atypical.For children with anorexia,nausea and vomiting,constipation,slow growth of height and weight,and intermittent fever,water and urine volume should be carefully recorded,urine specific gravity should be repeatedly measured,and water abstinence-vasopressin test and gene testing should be performed when necessary for clear diagnosis and early treatment.To avoid affecting the growth and development of children and the occurrence of urologic hydrops and renal damage.