A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus


Bircan Z., Karacayir N., Cheong H. I. I.

PEDIATRIC NEPHROLOGY, cilt.23, ss.663-665, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 23 Konu: 4
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1007/s00467-007-0682-0
  • Dergi Adı: PEDIATRIC NEPHROLOGY
  • Sayfa Sayıları: ss.663-665

Özet

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.