{Reference Type}: Case Reports
{Title}: A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus.
{Author}: Bircan Z;Karacayir N;Cheong HI;
{Journal}: Pediatr Nephrol
{Volume}: 23
{Issue}: 4
{Year}: Apr 2008
{Factor}: 3.651
{DOI}: 10.1007/s00467-007-0682-0
{Abstract}: Autosomal recessive nephrogenic diabetes insipidus (ARNDI) is a rare disease usually seen in patients with consanguineous parents. We report on a case of ARNDI in a patient with non-consanguineous parents who presented with recurrent febrile attacks. The differential diagnosis of ARNDI was made by desmopressin infusion test. A homozygous mutation, R85X, was detected in the aquaporin 2 gene (AQP2) of our patient, which has been described only once previously. This case is presented to stress that even male patients with non-consanguineous parents could have ARNDI with a AQP2 gene defect, and the desmopressin infusion test is useful for differential diagnosis.