Clinical characteristics of eight patients with congenital nephrogenic diabetes insipidus

Endocrine
Haruo MizunoHajime Togari

Abstract

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...Continue Reading

Citations

Apr 18, 2009·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Thierry BoussemartGérard Champion
May 23, 2006·Seminars in Nephrology·Jane H Christensen, Søren Rittig
Jan 1, 2007·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Goro SasakiTomonobu Hasegawa
Jul 6, 2011·Nature Reviews. Endocrinology·Muriel BabeyGary L Robertson
Jul 11, 2006·American Journal of Physiology. Renal Physiology·Joris H RobbenPeter M T Deen
Sep 14, 2013·Journal of Pediatric Endocrinology & Metabolism : JPEM·Che Ry HongHae Il Cheong

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