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J Korean Soc Pediatr Nephrol. 2011 Oct;15(2):172-178. Korean. Case Report.
Kim WK , Lee JS , Ha TS .
Department 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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