From infancy to adulthood: challenges in congenital nephrogenic diabetes insipidus.

Atmis B., Bayazit A., Melek E., Bisgin A., Anarat A.

Journal of pediatric endocrinology & metabolism : JPEM, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası:
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2019-0529
  • Dergi Adı: Journal of pediatric endocrinology & metabolism : JPEM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Anahtar Kelimeler: AQP2, AVPR2, bladder dysfunction, congenital nephrogenic diabetes insipidus, intracranial calcification, novel mutation, MUTATIONS
  • Çukurova Üniversitesi Adresli: Evet

Özet

Objectives: Congenital nephrogenic diabetes insipidus (NDI) is a rare hereditary disorder which is characterized by unresponsiveness to arginine vasopressin (AVP) in collecting ducts and leads to polyuria and polydipsia. The wide clinical spectrum of congenital NDI can cause difficulties in early diagnosis. We aimed to evaluate clinical prognosis of children with congenital NDI in long-term period.