Searchable abstracts of presentations at key conferences in endocrinology

ea0005p86 | Diabetes, Metabolism and Cardiovascular | BES2003

Autosomal dominant neurohypophyseal diabetes insipidus associated with a glutatmine47 deletion

Alcocer L , Boxer M , Connell J , Ahmed S

We describe a 3 year old Scottish girl with polyuria and nocturia and a past history of congenital heart disease. In addition to her excess fluid intake she had reduced food intake, failure to thrive and growth failure. Her sister, father, grandfather and a paternal aunt and uncle had a clear history of polyuria, nocturia and excess thirst. A fluid deprivation test revealed peak serum Na, serum and urine osmolalities were 147 mmol/L, 300 mOs/kg, 176 mOs/kg, respectively, in th...