X-LINKED RECESSIVE FORM OF NEPHROGENIC
DIABETES INSIPIDUS IN A 7-YEAR-OLD BOY
Janchevska A1,*, Tasic V1, Gucev Z1, Krstevska-Konstantinova M1, Cheong HI2,3,4
*Corresponding Author: Dr. Aleksandra Janchevska, Department of endocrinology and genetics, University
Children’s Hospital Skopje, Medical Faculty, 1000 Skopje, Republic of Macedonia. Tel: +389-2-3147-474. Fax:
+389-2-3129-027. E-mail: dr.sasha1969@yahoo.com
page: 81
|
|
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.
|
|
|
|
 |
Number 27
VOL. 27 (1), 2024 |
Number 26
Number 26 VOL. 26(2), 2023 All in one |
Number 26
VOL. 26(2), 2023 |
Number 26
VOL. 26, 2023 Supplement |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
|
