Kongenit nefrogen diabetes insipidus. En fire måneder gammel pige med forsinket psykomotorisk udvikling
Sammanfattning
A case report of a four-month-old girl of Turkish origin referred with delayed psychomotor development. The child's body temperature was elevated, and blood screening revealed severe hypernatremia. Severe polyuria (approx. 150 ml/kg b.w./24 h) with dilute urine (approx. 130 mosm/kg) was detected. Plasma osmolality and plasma vasopressin were elevated. Urinary osmolality was not affected by intravenously administered dDAVP, and congenital nephrogenic diabetes insipidus was diagnosed. A point mutation was identified in both alleles of the AQP2 gene (324C? T) in the proband. Two siblings as well as both parents (who were cousins) were found to be heterozygous for this mutation. Examples of diagnostic tools and therapeutic regimes of congenital nephrogenic diabetes insipidus are presented.