Ontology highlight
ABSTRACT:
SUBMITTER: Staffler A
PROVIDER: S-EPMC4421357 | biostudies-literature | 2009 Apr
REPOSITORIES: biostudies-literature
Staffler Alex A Benz Marcus R MR Weber Lutz T LT Holzinger Andreas A
NDT plus 20081209 2
A 6-month-old male infant presented with failure to thrive. Hypernatraemia and elevated serum osmolality in the presence of low urine sodium and osmolality led to the diagnosis of diabetes insipidus. Administration of 1-deamino-8-D-arginine vasopressin (dDAVP) neither decreased urine volume nor increased urine osmolality indicating congenital nephrogenic diabetes insipidus. Molecular analysis in the arginine-vasopressin receptor-2 gene (AVPR2) located on chromosome Xq28 demonstrated a novel 5-ba ...[more]