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.
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.
Bockenhauer D, Bichet DG. Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. Nat Rev Nephrol. 2015. https://doi.org/10.1038/nrneph.2015.89.
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.
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.
Hureaux M, Vargas-Poussou R. Genetic basis of nephrogenic diabetes insipidus. Mol Cell Endocrinol. 2023. https://doi.org/10.1016/j.mce.2022.111825.
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.
Bockenhauer D, Bichet DG. Nephrogenic diabetes insipidus. Curr Opin Pediatr. 2017. https://doi.org/10.1097/MOP.0000000000000473.
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.
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.
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.
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.
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.
Uribarri J, Kaskas M. Hereditary nephrogenic diabetes insipidus and bilateral nonobstructive hydronephrosis. Nephron. 1993. https://doi.org/10.1159/000187510.
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.
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.
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.
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.
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.
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.
Comments (0)