A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus


Tayfur A. C. , KARADUMAN T. , Turkmen M. O. , ŞAHİN D. , Yilmaz A. C. , Buyukkaragoz B., ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.10, ss.350-356, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 10 Konu: 4
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jcrpe.0097
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Sayfa Sayıları: ss.350-356

Özet

Objective: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by mutations in the arginine vasopressin receptor 2 (AVPR2) gene. Our objective is to report a novel mutation in the AVPR2 gene causing CNDI in a 6-year-old boy, presenting with growth failure and dull normal cognitive functions.