2004 Global Researcher Conference Proceeding
April 09 - 11, 2004
| Conference: | 2004 Global Researcher Conference |
|---|---|
| Title: | Clinical analysis of eight Japanese patients with congenital nephrogenic diabetes insipidus |
| Authors: | Mizuno, Haruo; Sugiyama, Yukari; Sasaki, Sei; Uchida, Shinichi; Togari, Hajime |
| Institutions: | Nagoya City University, Tokyo Medical & Dental University, Graduate School, Tokyo Medical and Dental University School of Medicine |
Congenital nephrogenic diabetes insipidus (NDI) 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, we investigated the clinical findings of 8 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 8 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 1 case, diabetes insipidus could be diagnosed based only on the results of a 5% hypertonic saline test. In 6 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 1 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 3 patients. No patient experienced serious renal dysfunction.
Mizuno, et al., report on their clinical findings on 8 patients with congenital NDI. The primary complaints reported by parents of the patients were unknown fever, failure to thrive and short stature. The researchers report that trichlormethiazide therapy reduced the urine volume of one NDI patient, but its effectiveness decreased over time. They treated a patient with partial NDI with trichlormethiazide along with 1-desamino-8-D-arginine vasopressin twice a day. This increased the concentration of the patient’s urine and eliminated the patient’s need to urinate frequently during the night. None of the eight patients had serious kidney dysfunction.