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

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

Pediatric Nephrology, cilt.23, sa.4, ss.663-665, 2008 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 4
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1007/s00467-007-0682-0
  • Dergi Adı: Pediatric Nephrology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.663-665
  • Anahtar Kelimeler: AQP2 gene, Autosomal recessive nephrogenic diabetes insipidus, Desmopressin infusion test, R85X mutation
  • Gazi Üniversitesi Adresli: Hayır

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. © IPNA 2007.