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A Case of Congenital Nephrogenic Diabetes Insipidus Confirmed by Gene Analysis  

Cho, Eun Young (Department of Pediatrics, College of Medicine, The Catholic University of Korea)
Oh, Jin Hee (Department of Pediatrics, College of Medicine, The Catholic University of Korea)
Koh, Dae Kyun (Department of Pediatrics, College of Medicine, The Catholic University of Korea)
Publication Information
Clinical and Experimental Pediatrics / v.48, no.6, 2005 , pp. 669-674 More about this Journal
Abstract
Nephrogenic diabetes insipidus (NDI) is a disorder in which the secretion of antidiuretic hormone is normal, but the response of the renal collecting tubules to vasopressin is impaired. Compared with acquired NDI (a-NDI), which is secondary to chronic bilateral incomplete urinary tract obstruction with hydronephrosis, congenital NDI (c-NDI) is a very rare heritable disorder that usually follows the X- linked recessive pattern. Clinical symptoms of c-NDI can be non specific, and often the disease ultimately results in failure to thrive, or mental retardation. Recently, the diagnosis can be confirmed by direct sequencing analysis of the peripheral blood specimens. The long-term results of treatment for c-NDI are not satisfactory. Reports on the follow up of c-NDI cases are rare and there is no report on the cases treated with combinations of three drugs. We report herein a case of severe c-NDI in an 8 year-old-boy with a severely dysconfigurated urinary tract system. The patient and his mother showed a frameshift mutation on the AVPR2 gene on chromosome Xq28:.847_851delTGCTG (p.C283fsX90). The patient showed normal growth and development by treatment with combinations of hydrochlorothiazide ($65mg/m^2$), amiloride (0.3 mg/kg/d) and indomethacin ($100mg/m^2$), yet after five years he needed adjuvant cystostomy to relieve him from the residual symptoms of urgency with polyuria.
Keywords
Nephrogenic diabetes insipidus (NDI); Congenital; AVPR2;
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1 Sohn YM, Lee C, Kim PK, Yun DJ. A case of congenital nephrogenic diabetes insipidus with bilateral hydronephrosis. J Korean Pediatr Soc 1980;23:417-21
2 Knoers N, Monnens LA. Nephrogenic diabetes insipidus :clinical symptoms, pathogenesis, genetics and treatment. Pediatr Nephrol 1992;6:476-82   DOI   ScienceOn
3 Nijenhuis M, Akker VD, Zalm R. Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone. J Clin Endocrinol Metab 2001;86:3410-20   DOI   ScienceOn
4 Richman RA, Post EM, Notman DD, Hochberg Z, Moses AM. Simplifying the diagnosis of diabetes insipidus in children. Am J Dis Child 1981;135:839-41
5 Knoers N, Monnerns LA. Amiloride-hydrochlorothiazide versus indomethacin-hydrochlorothiazide in the treatment of nephrogenic diabetes insipidus. J Pediatr 1990;117:499-502   DOI   PUBMED
6 Lim SD, Park KW, Rim HK, Kim JS, Rim JS. A case of nephrogenic diabetes insipidus complicated with bilateral hydroureteronephrosis and myogenic failure of bladder. Korean J Nephrol 2000;41:685-8
7 Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, van Os CH, et al. Requirement of human renal water chanel aquaporin-2 for vassopressin-dependent concentration of urine. Science 1994;264:92-5   DOI   PUBMED
8 Cheetham T, Baylis PH. Diabetes insipidus in children :pathophysiology, diagnosis and management. Paediatr Drugs 2002;4:785-96
9 Lieburg AF, Knoers NV, Monnens LA. Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol 1999;10:1958-64
10 Bendz H, Aurell M. Drug-induced diabetes insipidus. Drug Saf 1999;21:449-56   DOI   ScienceOn
11 Hochberg Z, Lieburg AV, Even L, Brenner B, Lanir N, van Oost BA, et al. Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation. J Clin Endocrinol Metab 1997;82:686-9   DOI   ScienceOn
12 Cheong HI, Park HW, Ha IS, Moon HN, Choi Y, Ko KW, et al. Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus. Nephron 1997; 75:431-7   DOI   ScienceOn
13 Canfield MC, Tamarappoo BK, Moses AM, Verkman AS, Holtzman EJ. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopression response. Hum Mol Genet 1997;6:1865-71   DOI   ScienceOn
14 Bichet DG. Nephrogenic diabetes insipidus. Am J Med 1998;105:431-42   DOI   PUBMED   ScienceOn
15 Uyeki TM, Barry FL, Rosenthal SM, Mathias RS. Successful treatment with hydrochlorothizide and amiloride in an infant with congenital nephrogenic diabetes insipidus. Pediatr Nephrol 1993;7:554-6   DOI   ScienceOn
16 Benchimol C. Nephrogenic diabetes insipidus. Pediatr Rev 1996;17:145-6   DOI   ScienceOn
17 Forssman H. On hereditary diabetes insipidus with regard to a sex-linked form. Acta Med Scand 1945;159:3-196
18 Park HW, Park JD, Kim HS, Kim HJ, Lee YK, Ha IS, et al. Analysis of vasopressin receptor type 2(AVPR2) gene in a pedigree with congenital nephrogenic diabetes insipidus : Identification of a family with R202C Mutation in AVPR2 gene. J Korean Soc Pediatr Nephrol 1999;3:209-16
19 Suh WB, Jeon JY, Cha SH, Cho BS, Ahn CI. A case of Nephrogenic diabetes insipidus with vesicoureteral reflux. J Korean Pediatr Soc 1991;34:1299-304
20 Bonioli E, Bellini C. Therapy for hereditary nephrogenic diabetes insipidus. J pediatr 1991;119:331   DOI   PUBMED
21 Bichet DG, Birnbaumer 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
22 Chang YI, Kim HU, Kim HD, Shin YS, Lee JM, Kim HS, et al. A case of congenital nephrogenic diabetes insipidus with bilateral hydronephrosis and hydroureter. Korean J Nephrol 2002;21:1026-31
23 Kirchlechner V, Koller DY, Seidl R, Waldhauser F. Treatment of nephrogenic diabetes insipidus with hydrochlorothiazide and amiloride. Arch Dis Child 1999;80:548-52   DOI   ScienceOn
24 Cheetham T, Baylis PH. Diabetes insipidus in children pathophysiology, diagnosis and management. Pediatr Drugs 2002;4:785-96
25 Knoers N, van der Heyden H, van Oost BA, Ropers HH, Monnens LA, Willems J. Nephrogenic diabetes insipidus :Close linkage with markers from distal long arm of the human X-chromosome. Hum Genet 1998;80:31-8   DOI   PUBMED