A Familial Case of Nephrogenic Diabetes Insipidus Associated with a Mutation of the AVPR2 Gene

Kim, Wun-Kon; Lee, Jin-Seok; Ha, Tae-Sun

doi:2011.15.2.172

J Korean Soc Pediatr Nephrol > Volume 15(2); 2011 > Article

J Korean Soc Pediatr Nephrol 2011;15(2): 172-178. doi: https://doi.org/10.3339/jkspn.2011.15.2.172

형제에서 발생한 신성 요붕증의 AVPR2 유전자변이 증례보고

김운곤, 이진석, 하태선

¹충북대학교 의과대학 소아과학교실
²충북대학교 의과대학 소아과학교실
³충북대학교 의과대학 소아과학교실

A Familial Case of Nephrogenic Diabetes Insipidus Associated with a Mutation of the AVPR2 Gene

Wun-Kon Kim, Jin-Seok Lee, Tae-Sun Ha

¹Department of Pediatrics, College of Medicine, Chungbuk National University
²Department of Pediatrics, College of Medicine, Chungbuk National University
³Department of Pediatrics, College of Medicine, Chungbuk National University

Received: March 29, 2011; Accepted: May 13, 2011.

ABSTRACT

Nephrogenic diabetes insipidus is a rare genetic renal disease characterized by insensitivity of the kidney to the anti-diuretic effect of vasopressin in spite of elevated serum anti-diuretic hormone (ADH). Failure of the kidney to respond to ADH results in impaired osmoregulation and water reabsorption of the kidney, therefore, nephrogenic diabetes insipidus presents with a large amount of hypotonic polyuria, polydipsia, and dehydration. We report our experience of two familial cases of nephrogenic diabetes insipidus in brothers both having c.910+1delG in intron 2 of the AVPR2 gene with the brief review of related literatures.

Key words: Nephrogenic diabetes insipidus | Familial | Genetic disease