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http://dx.doi.org/10.3339/jkspn.2011.15.2.172

A Familial Case of Nephrogenic Diabetes Insipidus Associated with a Mutation of the AVPR2 Gene  

Kim, Wun-Kon (Department of Pediatrics, College of Medicine, Chungbuk National University)
Lee, Jin-Seok (Department of Pediatrics, College of Medicine, Chungbuk National University)
Ha, Tae-Sun (Department of Pediatrics, College of Medicine, Chungbuk National University)
Publication Information
Childhood Kidney Diseases / v.15, no.2, 2011 , pp. 172-178 More about this Journal
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.
Keywords
Nephrogenic diabetes insipidus; Familial; Genetic disease;
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1 Fujiwara TM, Bichet DG. Molecular biology of hereditary diabetes insipidus. J Am Soc Nephrol 2005;16:2836-46.   DOI   ScienceOn
2 Shimura N. Urinary arginine vasopressin (AVP) measurement in children: water deprivation test incorporating urinary AVP. Acta Paediatr Jpn 1993;35:320-4.   DOI
3 Wenkert D, Merendino JJ Jr, Shenker A, Thambi N, Robertson GL, Moses AM, et al. Novel mutations in V2 vassopressin receptor gene of patient with X-linked nephrogenic diabetes insipidus. Hum Mol Genet 1994;3:1429-30.   DOI   ScienceOn
4 Faa V, Ventruto ML, Loche S, Bozzola M, Podda R, Cao A, et al. Mutations in the vasopressin V2 receptor gene in three families of Italian descent with nephrogenic diabetes insipidus. Hum Mol Genet 1994;3:1685-6.   DOI   ScienceOn
5 Oksche A, Mö ller A, Dickson J, Rosendahl W, Rascher W, Bichet DG, et al. Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patient with congenital nephrogenic diabetes insipidus. Hum Genet 1996;98:587-9.   DOI   ScienceOn
6 Oksch A, Rosenthal W. The molecular basis of nephrogenic diabetes insipidus. J Mol Med 1998;76:326-37.   DOI   ScienceOn
7 Jakobsson B, Berg U. Effect of hydrochlorothiazide and indomethacin treatment on renal function in nephrogenic diabetes insipidus. Acta Paedieatr 1994;83:522-5.   DOI   ScienceOn
8 Arthus MF, Lonergan M, Crumley MJ, Naumova AK, Morin D, De Marco LA, et al. Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 2000:11:1044-54.
9 Adam P. Evaluation and management of diabetes insipidus. Am Fam Physician 1997;55:2146-53.
10 Bichet DG. Nephrogenic diabetes insipidus. Am J Med 1998;105:431-42.   DOI   ScienceOn
11 Homma S, Gapstur SM, Coffey A, Valtin H, Dousa TP. Role of cAMP-phosphodiesterase isoenzymes in the pathogenesis of murine nephrogenic diabetes insipidus. Am J Physiol 1991;261:345-53.
12 Bichet DG, Hendy GN, Lonergan M, Arthus MF, Ligier S, Pausova Z, et al. X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies. Am J Hum Genet 1992;51:1089-102.
13 Spanakis E, Milord E, Gragnoli C. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. J Cell Physiol 2008;217:605-17.   DOI   ScienceOn
14 Knoers N, van der Heyden H, van Oost BA, Ropers HH, Monnens L, Willems J. Diabetes insipidus: close linkage with markers from the distal long arm of the human X-chromosome. Am J Hum Genet 1988;80:31-8.   DOI   ScienceOn
15 Bichet DG, Bimbaumer M, Lonergan M, Arthus MF, Rosenthal W, Goodyer P, et al. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet 1994;55:278-86.
16 Deen PM, Koers NV. Vasopressin type-2 receptor and aquaporin-2 water channel mutants in nephrogenic diabetes insipidus. Am J Med Sci 1998;316:300-9.   DOI   ScienceOn