Impaired urinary water excretion in a three-generation family

Citation
Y. Tanaka et al., Impaired urinary water excretion in a three-generation family, PED NEPHROL, 16(10), 2001, pp. 820-822
Citations number
10
Categorie Soggetti
Pediatrics
Journal title
PEDIATRIC NEPHROLOGY
ISSN journal
0931041X → ACNP
Volume
16
Issue
10
Year of publication
2001
Pages
820 - 822
Database
ISI
SICI code
0931-041X(200110)16:10<820:IUWEIA>2.0.ZU;2-S
Abstract
We report on a three-generation family (daughter, mother, and maternal gran dmother) with a syndrome of inappropriate secretion of antidiuretic hormone (SIADH)-like condition in the absence of inappropriate ADH secretion. In t he three females, a water load test showed severely reduced urinary water e xcretion, with the ratio of urine volume to the loaded water being 10-33% ( normal value: 70.2+/-7.8%). Urinary AQP2 excretion was normal, as was the D NA sequence of AVPR2 and AQP2. The results suggest the presence of a new do minantly inherited disorder for tubular water resorption.