ea0049ep815 | Paediatric endocrinology | ECE2017
Karaduman Tugce
, Ozcan Merve
, Celebi Tayfur Aslı
, Saglar Emel
, Erdem Beril
, Sahin Dilara
, Caltık Yılmaz Aysun
, Buyukkaragoz Bahar
, Derya Bulus Ayse
, Mergen Hatice
: X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by a defect in the vasopressin V2 receptor in renal collecting duct cells which is encoded by the AVPR2 gene (Xq28). More than 200 mutations have been found comprising missense, nonsense, small insertions and deletions, large deletions and complex rearrangements in AVPR2 gene to date. In this study, a 6-year-old boy was referred to the Pediatric Nephrology Department of Kecioren Research...