Mizuno Haruo, Sugiyama Yukari, Ohro Yoichiro, Imamine Hiroki, Kobayashi Masanori, Sasaki Sei, Uchida Sinichi, Togari Hajime
Department of Pediatrics, Neonatology and Congenital Disorders, Nagoya City University, Graduate School of Medical Sciences, Nagoya, Japon.
Endocrine. 2004 Jun;24(1):55-9. doi: 10.1385/ENDO:24:1:055.
Congenital nephrogenic diabetes insipidus (NDI) is characterized by the insensitivity of the distal nephron to arginine vasopressin. Clinical knowledge of this disease is based largely on case reports. For this study, we investigated the clinical findings of eight patients in terms of age at onset, age at diagnosis, main complaint, results of physical examination, the diagnosis, the effect of treatment, kidney function, and presence or absence of gene defects. The main complaints of all eight cases at initial examination were unknown fever, failure to thrive, and short stature. Polyuria and polydipsia are not always the chief complaints with congenital NDI. In one case, diabetes insipidus could be diagnosed based only on the results of a 5% hypertonic saline test. In six cases, we found abnormalities in the V2 receptor gene. Initially, trichlormethiazide therapy was shown to have a significant effect on polyuria; however, this effect decreased over time. In one patient with partial NDI, the addition of trichlormethiazide twice a day to 1-desamino-8-D-arginine vasopressin increased urine osmolality in the morning and caused nocturia to disappear. Results of 99mTc-diethylenetriamine pentaacetic acid kidney scintigraphy revealed a slight decrease in glomerular filtration rate in three patients. No patient experienced serious renal dysfunction.
先天性肾性尿崩症（NDI）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，我们从发病年龄、诊断年龄、主要症状、体格检查结果、诊断、治疗效果、肾功能以及是否存在基因缺陷等方面调查了8例患者的临床情况。所有8例患者初诊时的主要症状均为不明原因发热、生长发育迟缓及身材矮小。多尿和烦渴并非先天性NDI的总是主要症状。在1例患者中，仅根据5%高渗盐水试验结果即可诊断尿崩症。在6例患者中，我们发现V2受体基因存在异常。最初，氢氯噻嗪治疗对多尿显示出显著效果；然而，随着时间推移这种效果减弱。在1例部分性NDI患者中，每天两次将氢氯噻嗪添加到1-去氨基-8-D-精氨酸加压素中，可使晨尿渗透压升高并使夜尿消失。99mTc-二乙三胺五乙酸肾闪烁显像结果显示，3例患者的肾小球滤过率略有下降。没有患者出现严重肾功能障碍。
