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 antidiuretic 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