The natural history of untreated X-linked nephrogenic diabetes insipidus with mutation in the vasopressin V2 receptor gene

Christ-Crain M, Bichet DG, Fenske WK, Goldman MB, Rittig S, Verbalis JG, et al. Diabetes insipidus. Nat Rev Dis Primers. 2019. https://doi.org/10.1038/s41572-019-0103-2.

Article  PubMed  Google Scholar 

Nielsen S, Marples D, Frøkiær J, Knepper M, Agre P. The aquaporin family of water channels in kidney: an update on physiology and pathophysiology of aquaporin-2. Kidney Int. 1996. https://doi.org/10.1038/ki.1996.254.

Article  PubMed  Google Scholar 

Bockenhauer D, Bichet DG. Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. Nat Rev Nephrol. 2015. https://doi.org/10.1038/nrneph.2015.89.

Article  PubMed  Google Scholar 

Duicu C, Pitea AM, Săsăran OM, Cozea I, Man L, Bănescu C. Nephrogenic diabetes insipidus in children (Review). Exp Ther Med. 2021. https://doi.org/10.3892/etm.2021.10178.

Article  PubMed  PubMed Central  Google Scholar 

Patti G, Scianguetta S, Roberti D, Di Mascio A, Balsamo A, Brugnara M, et al. Familial neurohypophyseal diabetes insipidus in 13 kindreds and 2 novel mutations in the vasopressin gene. Eur J Endocrinol. 2019. https://doi.org/10.1530/EJE-19-0299.

Article  PubMed  Google Scholar 

Milano S, Carmosino M, Gerbino A, Svelto M, Procino G. Hereditary nephrogenic diabetes insipidus: pathophysiology and possible treatment. An Update Int J Mol Sci. 2017. https://doi.org/10.3390/ijms18112385.

Article  PubMed  Google Scholar 

Hureaux M, Vargas-Poussou R. Genetic basis of nephrogenic diabetes insipidus. Mol Cell Endocrinol. 2023. https://doi.org/10.1016/j.mce.2022.111825.

Article  PubMed  Google Scholar 

Prosperi F, Suzumoto Y, Marzuillo P, Costanzo V, Jelen S, Iervolino A, et al. Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R–V2R mutation. Sci Rep. 2020. https://doi.org/10.1038/s41598-020-73089-x.

Article  PubMed  PubMed Central  Google Scholar 

Szalai L, Sziráki A, Erdélyi LS, Kovács KB, Tóth M, Tóth AD, et al. Functional rescue of a nephrogenic diabetes insipidus causing mutation in the V2 vasopressin receptor by specific antagonist and agonist pharmacochaperones. Front Pharmacol. 2022. https://doi.org/10.3389/fphar.2022.811836.

Article  PubMed  PubMed Central  Google Scholar 

Guarino S, Diplomatico M, Marotta R, Pecoraro A, Furlan D, Cerrone L, et al. Nephrogenic diabetes insipidus in childhood: assessment of volume status and appropriate fluid replenishment. Pediatr Emerg Care. 2020. https://doi.org/10.1097/PEC.0000000000001438.

Article  PubMed  Google Scholar 

Bockenhauer D, Bichet DG. Nephrogenic diabetes insipidus. Curr Opin Pediatr. 2017. https://doi.org/10.1097/MOP.0000000000000473.

Article  PubMed  Google Scholar 

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. https://doi.org/10.1681/ASN.V1091958.

Article  PubMed  Google Scholar 

Yoo TH, Ryu DR, Song YS, Lee SC, Kim HJ, Kim JS, et al. Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations. Yonsei Med J. 2006. https://doi.org/10.3349/ymj.2006.47.1.126.

Article  PubMed  PubMed Central  Google Scholar 

Stevens J, Brown BD, McGahan JP. Nephrogenic diabetes insipidus: a cause of severe nonobstructive urinary tract dilatation. J Ultrasound Med. 1995. https://doi.org/10.7863/jum.1995.14.7.543.

Article  PubMed  Google Scholar 

Zender HO, Ruedin P, Moser F, Bolle JF, Leski M. Traumatic rupture of the urinary tract in a patient presenting nephrogenic diabetes insipidus associated with hydronephrosis and chronic renal failure: case report and review of the literature. Clin Nephrol. 1992;38(4):196–202.

PubMed  CAS  Google Scholar 

Hora M, Reischig T, Hes O, Ferda J, Klečka J. Urological complications of congenital nephrogenic diabetes insipidus - Long-term follow-up of one patient. Int Urol Nephrol. 2006. https://doi.org/10.1007/s11255-006-0093-3.

Article  PubMed  Google Scholar 

Shalev H, Romanovsky I, Knoers NV, Lupa S, Landau D. Bladder function impairment in aquaporin-2 defective nephrogenic diabetes insipidus. Nephrol Dial Transplant. 2004. https://doi.org/10.1093/ndt/gfg574.

Article  PubMed  Google Scholar 

Uribarri J, Kaskas M. Hereditary nephrogenic diabetes insipidus and bilateral nonobstructive hydronephrosis. Nephron. 1993. https://doi.org/10.1159/000187510.

Article  PubMed  Google Scholar 

Colliver D, Storey R, Dickens H, Subramaniam R. Nonobstructive urinary tract dilatation in children with diabetes insipidus. J Pediatr Surg. 2012. https://doi.org/10.1016/j.jpedsurg.2011.08.007.

Article  PubMed  Google Scholar 

Higuchi A, Kawamura T, Nakai H, Hasegawa Y. Infrequent voiding in nephrogenic diabetes insipidus as a cause of renal failure. Pediatr Int. 2002. https://doi.org/10.1046/j.1442-200x.2002.01599.x.

Article  PubMed  Google Scholar 

Ryu HH, Chung JH, Chul Shin B, Kim HL. Congenital nephrogenic diabetes insipidus with end-stage renal disease. Korean J Intern Med. 2015. https://doi.org/10.3904/kjim.2015.30.2.259.

Article  PubMed  PubMed Central  Google Scholar 

Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, et al. Treatment and long-term outcome in primary nephrogenic diabetes insipidus. Nephrol Dial Transplant. 2023;38(10):2120–30. https://doi.org/10.1093/ndt/gfaa243.

Article  CAS  Google Scholar 

D’Alessandri-Silva C, Carpenter M, Ayoob R, Barcia J, Chishti A, Constantinescu A, et al. Diagnosis, Treatment, and Outcomes in Children With Congenital Nephrogenic Diabetes Insipidus: A Pediatric Nephrology Research Consortium Study. Front Pediatr. 2020. https://doi.org/10.3389/fped.2019.00550.

Article  PubMed  PubMed Central  Google Scholar 

Sharma S, Ashton E, Iancu D, Arthus MF, Hayes W, Van’t Hoff W, et al. Long-term outcome in inherited nephrogenic diabetes insipidus. Clin Kidney J. 2018. https://doi.org/10.1093/ckj/sfy027.

Article  PubMed  PubMed Central  Google Scholar 

Atmis B, Bayazit AK, Melek E, Bisgin A, Anarat A. From infancy to adulthood: Challenges in congenital nephrogenic diabetes insipidus. J Pediatr Endocrinol Metabo. 2020. https://doi.org/10.1515/jpem-2019-0529.

Article  Google Scholar 

Wang X, Ying X, Zhang F, Li X, Chen G, Zhou Z, et al. Upper urinary dilatation and treatment of 26 patients with diabetes insipidus: A single-center retrospective study. Front Endocrinol (Lausanne). 2022. https://doi.org/10.3389/fendo.2022.941453.

Article  PubMed  PubMed Central  Google Scholar 

Caletti MG, Balestracci A, Di Pinto D. Pre- and post-treatment urinary tract findings in children with nephrogenic diabetes insipidus. Pediatr Nephrol. 2014. https://doi.org/10.1007/s00467-013-2689-z.

Article  PubMed  Google Scholar 

La Scola C, Rivetti G, Bertulli C, Di Sessa A, Guarino S, Pasini A, et al. Failure to thrive in children with tubulopathies increases the risk of overweight later in life. Int J Obes (Lond). 2024. https://doi.org/10.1038/s41366-023-01386-2.

Article  PubMed  Google Scholar 

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