A Familial Case of Nephrogenic Diabetes Insipidus Associated with a Mutation of the AVPR2 Gene.
- Author:
Wun Kon KIM
1
;
Jin Seok LEE
;
Tae Sun HA
Author Information
1. Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju, Korea. tsha@chungbuk.ac.kr
- Publication Type:Case Report
- Keywords:
Nephrogenic diabetes insipidus;
Familial;
Genetic disease
- MeSH:
Dehydration;
Diabetes Insipidus, Nephrogenic;
Humans;
Introns;
Kidney;
Polydipsia;
Polyuria;
Siblings;
Vasopressins;
Water;
Water-Electrolyte Balance
- From:Journal of the Korean Society of Pediatric Nephrology
2011;15(2):172-178
- CountryRepublic of Korea
- Language:Korean
-
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.
