Impaired urinary water excretion in a three-generation family.
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.
Tanaka
Y
Y
Department of Pediatrics, Ichikawa General Hospital, Tokyo Dental College, Chiba, Japan. ytanaka7@aol.com
Sugita
K
K
Saito
T
T
Muroya
K
K
Ishikawa
S E
SE
Awazu
M
M
Ogata
T
T
D000328:Adult; D000368:Aged; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins / Q000652:urine; D002648:Child; D005260:Female; D006801:Humans; D007177:Inappropriate ADH Syndrome / Q000235:genetics* / Q000378:metabolism* / Q000652:urine; D009994:Osmolar Concentration; D014554:Urination; D014867:Water / Q000378:metabolism*
C496023:AQP2 protein, human; D051399:Aquaporin 2; D051403:Aquaporin 6; D020346:Aquaporins; D014867:Water