X-Linked Recessive Form of Nephrogenic Diabetes Insipidus in A 7-Year-Old Boy
References
- 1. Morello JP, Bichet DG. Nephrogenic diabetes insipidus. Annu Rev Physiol. 2001; 63: 607-630.
- 2. Birnbaumer M. Vasopressin receptors. Trends Endocrinol Metab. 2000; 11(10): 406-410.
- 3. Schöneberg T, Kostenis E, Liu J, Gudermann T, Wess J. Molecular aspects of vasopressin receptor function. Adv Exp Med Biol. 1998; 449: 347-358.
- 4. Robert J, Clauser ER. Vasopressin receptors: Structure/function relationships and signal transduction in target cells. J Soc Biol. 2005; 199(4): 351-359.
- 5. Cannon JF. Diabetes insipidus: Clinical and experimental studies with consideration of genetic relationships. Arch Intern Med. 1995; 96: 215-272.
- 6. Nakano KK. Familial nephrogenic diabetes insipidus. Hawaii Med J. 1969; 28: 205-208.
- 7. van Lieburg AF, Knoers NVAM, Monnens LAH. Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol. 1999; 10(9): 1958-1964.
- 8. Hong CR, Kang HG, Choi HJ, Cho MH, Lee JW, Kang JH, et al. X-linked recessive nephrogenic diabetes insipidus: a clinicogenetic study. J Pediatr Endocrinol Metab. 2014; 27(1-2): 93-99.
- 9. Seibold A, Brabet P, Rosenthal W, Birnbaumer M. Structure and chromosomal localization of the human antidiuretic hormone receptor gene. Am J Hum Genet. 1992; 51(5): 1078-1083.
- 10. Bichet DG, Turner M, Morin D. Vasopressin receptor mutations causing nephrogenic diabetes insipidus. Proc Assoc Am Physicians. 1998; 110(5): 387-394.
- 11. Bichet DG. Nephrogenic diabetes insipidus. Adv Chronic Kidney Dis. 2006; 13(2): 96-104.
- 12. van den Ouweland AMW, Dreesen JCFM, Verdijk M, Knoers NVAM, Monnens LAH, et al. Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet. 1992; 2(2): 99-102.
- 13. Wildin RS, Antush MJ, Bennett RL, Schoof JM, Scott CR. Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. Am J Hum Genet. 1994; 55(2): 266-277.
- 14. 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(2): 278-286.
- 15. Tsukaguchi H, Matsubara H, Taketani S, Mori Y, Seido T, Inada M. Binding, intracellular transport, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. J Clin Invest.1995; 96(4): 2043-2050.
- 16. 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(4): 431-437.
- 17. Carroll P, Al-Mojalli H, Al-Abbad A, Al-Hassoun I, Al-Hamed M, Al-Amr R, et al. Novel mutations underlying nephrogenic diabetes insipidus in Arab families. Genet Med. 2006; 8(1): 443-447.
- 18. Bichet DG. Molecular and cellular biology of vasopressin and oxytocin receptors and action in the kidney. Curr Opin Nephrol Hypertens. 1994; 3(1): 46-53.
- 19. Bichet DG. Pathological aspects of water transport in the collecting ducts. Nephrologie. 1996; 17(7): 417-422.
- 20. Alon U, Chan JCM. Hydrochlorothiazideamiloride in the treatment of congenital nephrogenic diabetes insipidus. Am J Nephrol. 1985; 5(1) 9-13.
- 21. Libber S, Harrison H, Spector D. Treatment of nephrogenic diabetes insipidus with prostaglandin synthesis inhibitors. J Pediatr. 1986; 108(2): 305-311.
- 22. Morin D, Delenne AL, Kervran A. Congenital nephrogenic diabetes insipidus. Arch Pediatr. 2005; 12(1): 59-66.
- 23. Cheong HI, Cho HY, Park HW, Ha IS, Choi Y. Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones. Nephrology. 2007; 12(2): 113-117.
- 24. Los EL, Deen PM, Robben JH. Potential of nonpeptide (ant)agonists to rescue vasopressin V2 receptor mutants for the treatment of X-linked nephrogenic diabetes insipidus. J Neuroendocrinol. 2010; 22(5): 393-399.
- 25. Bockenhauer D, Carpentier E, Rochdi D, van’t Hoff W, Breton B, Bernier V, et al. Vasopressin type 2 receptor V88M mutation: Molecular basis of partial and complete nephrogenic diabetes insipidus. Nephron Physiol. 2010; 114(1): 1-10.
- 26. Ranadive SA, Ersoy B, Favre H, Cheung CC, Rosenthal SM, Miller WL, et al. Identification, characterization and rescue of a novel vasopressin-2 receptor mutation causing nephrogenic diabetes insipidus. Clin Endocrinol (Oxf). 2009; 71(3): 388-393.
- 27. Robben JH, Deen PM. Pharmacological chaperones in nephrogenic diabetes insipidus: Possibilities for clinical application. BioDrugs. 2007; 21(3): 157-166.
- 28. Robben JH, Sze M, Knoers NV, Deen PM. Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones: Relevance to therapy of nephrogenic diabetes insipidus. Am J Physiol Renal Physiol. 2007; 292(1): 253-260.
- 29. Morello JP, Salahpour A, Laperrière A, Bernier V, Arthus MF, Lonergan M, et al. Pharmacological chaper-ones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants. J Clin Invest. 2000; 105(7): 887-895.
DOI: https://doi.org/10.2478/bjmg-2014-0078 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Language: English
Page range: 81 - 85
Published on: Apr 10, 2015
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
Related subjects:
© 2015 A. Janchevska, V. Tasic, Z. Gucev, M. Krstevska-Konstantinova, H. I. Cheong, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.