van Lieburg A F, Knoers N V, Monnens L A
Department of Pediatrics, University Hospital Nijmegen, The Netherlands.
J Am Soc Nephrol. 1999 Sep;10(9):1958-64. doi: 10.1681/ASN.V1091958.
Congenital nephrogenic diabetes insipidus is characterized by insensitivity of the distal nephron to arginine vasopressin. Clinical knowledge of this disease is based largely on case reports. For this study, data were collected on clinical presentation and during long-term follow-up of 30 male patients with congenital nephrogenic diabetes insipidus. The majority of patients (87%) were diagnosed within the first 2.5 yr of life. Main symptoms at clinical presentation were vomiting and anorexia, failure to thrive, fever, and constipation. Three older patients were diagnosed as a result of events not directly related to the disease. Except for a possibly milder phenotype in patients with a G185C mutation, no clear relationship between clinical and genetic data could be found. Most patients were on hydrochlorothiazide-amiloride treatment without significant side effects. Two patients suffered from severe hydronephrosis with a small rupture of the urinary tract after a minor trauma, and two patients experienced episodes of acute urine retention. Height SD scores for age remained below the 50th percentile in the majority of patients, whereas weight for height SD scores showed a catch-up after several years of underweight.
先天性肾性尿崩症的特征是远端肾单位对精氨酸加压素不敏感。关于这种疾病的临床知识很大程度上基于病例报告。在本研究中，收集了30例先天性肾性尿崩症男性患者的临床表现及长期随访数据。大多数患者（87%）在出生后的头2.5年内被诊断出来。临床表现的主要症状为呕吐、厌食、生长发育迟缓、发热和便秘。3例年龄较大的患者是由于与疾病无直接关系的事件而被诊断出来的。除了携带G185C突变的患者可能具有较温和的表型外，未发现临床数据与遗传数据之间存在明确关联。大多数患者接受氢氯噻嗪 - 阿米洛利治疗，且无明显副作用。2例患者患有严重肾积水，在轻微创伤后尿路出现小破裂，2例患者经历了急性尿潴留。大多数患者的年龄身高标准差得分仍低于第50百分位数，而身高体重标准差得分在体重过轻数年之后出现追赶现象。
