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Journal of the Korean Society of Pediatric Nephrology 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.
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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
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