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先天性肾原性尿崩症(NDI)为遗传性疾病,笔者碰到2例姨表兄弟同患,报道如下。 病历摘要 例1:男,10岁,因多饮多尿10年入院。2月龄时起病,随年龄增长愈加明显。常有头痛、乏力,饮水后症状消失。智力发育中等,但身高较同龄人为低。体检:神志清,消瘦,体重28kg,身高125cm,皮肤干燥,心、肺、腹、神经系统检查均正常。住院期间24 h饮水量7000～8000ml,尿量8000ml左右。实验室检查:尿比重<1.005,尿pH5.0～5.5,尿糖阴性,血清钠、钾、钙分别为140.7、4.0、2.35mmol/L。禁水加压素试验:每隔1h留尿1次,尿量由580ml/h减少至200ml/h,而尿比重一直未超过1.005。患儿体重由28kg降至27k8,下降超过5％,测血清钠156.8mmol/L。血气分析、肝肾功能、尿蛋白均正常。诊断为NDI。头颅CT示双侧基底节对称性钙化。肾脏B超示双侧集合系统分
Congenital nephrogenic diabetes insipidus (NDI) is a genetic disease, I encountered two aunt cousin with the disease, reported as follows. Case history summary 1: Male, 10 years old, due to drink polyuria 10 years admitted. 2-month-old onset, with age more obvious. Often headache, fatigue, symptoms disappeared after drinking water. Intelligence medium development, but height is lower than their peers. Physical examination: conscious, weight loss, weight 28kg, height 125cm, dry skin, heart, lung, abdomen, nervous system tests are normal. 24 h drinking water during the hospital 7000 ~ 8000ml, urine output of about 8000ml. Laboratory tests: urine specific gravity <1.005, urine pH5.0 ~ 5.5, urine negative, serum sodium, potassium and calcium were 140.7,4.0,2.35mmol / L. No vasopressin test: 1h urine every 1h, urine output decreased from 580ml / h to 200ml / h, while the proportion of urine has not exceeded 1.005. Children with body weight decreased from 28kg 27k8, down more than 5%, serum sodium 156.8mmol / L. Blood gas analysis, liver and kidney function, urine protein were normal. Diagnosed as NDI. Head CT showed bilateral basal ganglia symmetry calcification. B-ultrasound showed bilateral collection system points