Yayınlanmış 1 Ocak 2018 | Sürüm v1
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A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus

  • 1. Kecioren Training & Res Hosp, Clin Pediat Nephrol, Ankara, Turkey
  • 2. Hacettepe Univ, Dept Biol, Fac Sci, Ankara, Turkey
  • 3. Kecioren Training & Res Hosp, Clin Pediat Endocrinol, Ankara, Turkey

Açıklama

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.

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