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患儿,男,4岁.生后3个月开始呕吐、便秘.继之发现多饮多尿,并随年龄增长而加重.现每天饮水量和尿量均为4～5L,尿色淡如白水.四年来无明显原因多次发热、惊厥,至今已20余次.患儿为G_1P_1,足月顺产.2岁会走,现快走时仍不稳,易跌跤.语言障碍,只会说几个单音节字.对周围环境反应淡漠,智力明显落后.体检:体重17kg,身长98cm,五官端正,心肺无异常,生理反射存在,病理反射未引出.实验室检查:尿比重多次查1.000～1.006,尿渗透压均<200mosm/L,血钠、钾、氯分别为165、3.9、126mmol/L.血钙、磷、尿素氮、肌酐、T_3、T_4、TSH及尿常规、24小时尿钙均正常,并查染色体正常.限水试验结果:尿量逐次减少,但尿比重仍在1.002～1.006,尿渗透压<200mosm/L,血钠、钾、氯分别为165、3.4、133mmol/L.垂体加压素试验:皮下注射垂体加压素5单位,于注射后15、30、45分钟检尿结果:每次尿量无明显减少,3次尿比重均为1.000.胸正位片、心电
Children, male, 4 years old 3 months after birth began to vomit, constipation .And then found to drink more urine and increased with age and aggravate .Daily daily water intake and urine output are 4 ~ 5L, pale urine such as White water. Four years no obvious cause repeated fever, convulsions, so far has been more than 20. Children with G_1P_1, full-term natural delivery .2-year-old will go, now go fast walking is still unstable, easy to fall. A monosyllabic word. Indifferent to the surrounding environment, mental retardation. Physical examination: weight 17kg, length 98cm, facial features, no abnormal heart and lungs, physical reflection exists, the pathological reflex did not lead to. Laboratory tests: 1.006, urinary osmolality <200 mosm / L, serum sodium, potassium and chloride were 165,3.9,126mmol / L. Serum calcium, phosphorus, urea nitrogen, creatinine, T_3, T_4, TSH and urine routine, 24-hour urinary calcium The results showed that urine output decreased gradually, but urine specific gravity was still 1.002-1.006, urine osmolality <200mosm / L, serum sodium, potassium and chloride were 165,3.4 and 133mmol / L Pituitary vasopressin test: subcutaneous injection of 5 units of vasopressin, 15,30,45 minutes after injection of urine results: no significant decrease in urine volume, urine 3 times Re are 1.000. Anteroposterior chest, ECG