Ontology highlight
ABSTRACT:
SUBMITTER: Kobayashi D
PROVIDER: S-EPMC4421425 | biostudies-literature | 2010 Dec
REPOSITORIES: biostudies-literature
NDT plus 20100909 6
We describe a paediatric case of nephrogenic diabetes insipidus (NDI) with a novel mutation in the arginine vasopressin receptor 2 gene (AVPR2) in the absence of a family history of congenital polyuria. The patient, a 5-month-old Caucasian boy, had failure to thrive and hypernatraemia. On admission to hospital, he had a plasma sodium of 171 mEq/L with a concomittant urine osmolality of 131 mOsm/kg. Molecular genetic analysis demonstrated that the patient had an AVPR2 mutation (c.861C > G) result ...[more]