J Korean Soc Pediatr Nephrol.
2011 Oct;15(2):172-178.
A Familial Case of Nephrogenic Diabetes Insipidus Associated with a Mutation of the AVPR2 Gene
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- 1Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea. tsha@chungbuk.ac.kr
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.
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