遗传性垂体性尿崩症合并肾积水的诊疗体会

Diagn sis and treatment of familial neurohypophyseal diabetes insipidus with hydronephrosis

目的探讨遗传性垂体性尿崩症合并肾积水的病因和诊疗方法。方法回顾性分析2009年6月至2010年12月收治两个家系6例遗传性垂体性尿崩症合并肾积水患者的临床资料。男5例，女1例。年龄11～53岁，平均33岁。均自幼有多饮、多尿表现，24h尿量5290～15040ml，尿比重〈1．005，禁水一加压素试验阳性，垂体大小及形态正常。B超和IVU检查显示6例患者双肾均有不同程度积水。5例成年患者给予醋酸去氨加压素片0．2mg，3次／d，1例儿童患者用量减半。1号家系先证者分期行双肾穿刺造瘘术和双侧输尿管膀胱再植术，2号家系先证者行导尿术后留置尿管5d，同时口服坦索罗辛。3例合并泌尿系感染者根据尿液细菌培养和药敏试验结果给予抗生素治疗。6例患者每3个月随访1次，随访18—36个月。结果6例患者多饮、多尿症状明显改善，5例成年患者24h尿量降至6000ml以下，1例儿童患者24h尿量降至2000ml以下。1号家系先证者双肾穿刺造瘘术后腰部酸胀缓解，双侧输尿管膀胱再植术后6个月复查双肾积水程度明显减轻。2号家系先证者感染控制后未见复发，残余尿量减至40ml。6例患者肾积水均较前减轻，感染无复发。结论减少尿量是治疗遗传性垂体性尿崩症合并肾积水的关键，早期明确诊断和积极治疗对减轻肾功能损害有重要意义。

Objective To investigate the causes and treatment of familial neurohypophyseal diabe-tes insipidus with hydronephrosis. Methods A retrospective analysis was conducted in 6 cases （5 males and 1 female, aged 11 to 53 years） of familial neurohypophyseal diabetes insipidus with hydronephrosis trea-ted in our institute from June 2009 to December 2010. All cases had polydipsia and polyuria since their childhood. The daily output of urine ranged from 5,290 to 15,040 ml. The urine specific gravity was less than 1. 005. The water deprivation and vasopressin injection test showed positive results, and MRI showed that the shape and size of pituitary gland were in normal range. Ultrasound and IVU showed that all cases had hydronephrosis. Five adult cases were administered with Desmopressin 0.2 mg three times a day, and 1 juvenile patient given half dosage of Desmopressin as in adult. The case No. 1 underwent percutaneous ne- phrostomy and bilateral ureteral reimplantation. Case No. 2 received urethral catheterization for 5 days and Tamsulosin. Three cases with urinary tract infection were given antibiotics on the base of urine culture and antibiotic sensitivity test results. Follow-up was undertaken every 3 mon for the duration of 18 -36 mon. Results In 6 eases, polydipsia and poiyuria were significantly improved after the treatment. Daily urine output dropped to 6000 ml in 5 adult cases and decreased to 2000 ml in the juvenile case. The flank sore of case No. 1 was relieved after percutaneous nephrostomy, and hydronephrosis improved 6 mon after bilateral ureteral reimplantation. The residual urine volume of case No. 2 was reduced to 40 ml, and no recurrence was observed after anti-infection therapy. During the follow-up, 6 eases showed relieved hydronephrosis and no recurrent infeetion, Conclusions It is of important to reduce the urine volume for the treatment of fa-milial neurohypophyseal diabetes insipidus with hydronephrosis. Early diagnosis and treatment of the diseases is crucial for the improvement of renal function.