Impaired urinary water excretion in a three-generation family

• Published in: Pediatric nephrology (Berlin, West) Vol. 16; no. 10; pp. 820 - 822
• Main Authors: TANAKA, Yoko, SUGITA, Kiyoko, SAITO, Takako, MUROYA, Koji, ISHIKAWA, San-E, AWAZU, Midori, OGATA, Tsutomu
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-10-2001; Springer Nature B.V
• Subjects: Adult; Aged; Aquaporin 2; Aquaporin 6; Aquaporins - urine; Biological and medical sciences; Child; Female; Humans; Inappropriate ADH Syndrome - genetics; Inappropriate ADH Syndrome - metabolism; Inappropriate ADH Syndrome - urine; Kidneys; Medical sciences; Nephrology. Urinary tract diseases; Osmolar Concentration; Urinary system involvement in other diseases. Miscellaneous; Urination; Water - metabolism; Endocrinopathy; Human; Inappropriate secretion; Urinary system disease; Antidiuretic hormone; Family study; Etiopathogenesis; Female; Diagnosis; Genetic determinism
• ISSN: 0931-041X; 1432-198X
• DOI: 10.1007/s004670100663

We report on a three-generation family (daughter, mother, and maternal grandmother) with a syndrome of inappropriate secretion of antidiuretic hormone (SIADH)-like condition in the absence of inappropriate ADH secretion. In the three females, a water load test showed severely reduced urinary water excretion, 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 DNA sequence of AVPR2 and AQP2. The results suggest the presence of a new dominantly inherited disorder for tubular water resorption.