Dent disease: A cause of proteinuria against all odds
DOI:
https://doi.org/10.25753/BirthGrowthMJ.v32.i4.26582Keywords:
CLCN5, Dent disease, hypercalciuria, OCRL, proteinuriaAbstract
Dent disease is a rare X-linked progressive renal disease characterized by hypercalciuria and low molecular weight proteinuria. In early childhood, patients may manifest only proteinuria and/or hypercalciuria, both of which are generally asymptomatic.
The authors report three cases of male patients with asymptomatic, non-orthostatic nephrotic proteinuria first detected during screening for an acute condition. All had intermittent hypercalciuria, one had nephrocalcinosis, and one had mild hypotonia and some learning difficulties. Genetic testing identified pathogenic variants in all patients, two in the OCRL gene and one in the CLCN5 gene. To date, none have developed chronic kidney disease.
The diagnosis of Dent disease can be challenging, but it should be considered in all men with unexplained proteinuria. This approach may not only allow for earlier diagnosis, but also avoid unnecessary testing and potentially harmful treatments.
Downloads
References
Scheinman SJ, Lieske JC. Dent disease (X-linked recessive nephrolithiasis). UpToDate, last updated in Sep 21, 2021. [accessed 2021 Nov 27]. Available from: https://www.uptodate.com/contents/dent-disease-x-linked-recessive-nephrolithiasis.
Lieske JC, Milliner DS, Beara-Lasic L, Harris P, Cogal A, Abrash E. Dent Disease. GeneReviews, last updated in Dez 14, 2017. [accessed 2021 Nov 27]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK99494.
Anglani F, D’Angelo A, Bertizzolo LM, Tosetto E, Ceol M, Cremasco D, et al. Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations. Springerplus. 2015;4:492. https://doi.org/10.1186/s40064-015-1294-y.
Duan N, Huang C, Pang L, Jiang S, Yang W, Li H. Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria – three case reports for exploring Dent Disease and Fancony syndrome. BMC Nephrology. 2021;22(1):24. https://doi.org/10.1186/s12882-020-02225-6.
Ehlayed AM, Copelovitch L. Update on Dent Disease. Pediatr Clin N Am. 2019;66 (1):169-178.
Berkel Y, Ludwig M, Wijk J, Bokenkamp A. Proteinuria in Dent disease: a review of the literature. Pediatr Nephrol. 2017;32(10):1851-9. https://doi.org/10.1007/s00467-016-3499-x.
Zaniew M, Mizerska-Wasiak M, Zaluska-Lesniewska I, Adamczyk P, Kilis-Pstrusinska K, Halinski A, et al. Dent disease in Poland: What have we learned so far? Int Urol Nephrol. 2017;49(11):2005-17. https://doi.org/10.1007/s11255-017-1676-x.
Szczepanska M, Zaniew M, Recker F, Mizerska-Wasiak M, Zaluska-Lesniewska I, Kilis-Pstrusinska K, et al. Dent disease in children: diagnostic and therapeutic considerations. Clinical Nephrology. 2015;84(4):222-30. https://doi.org/10.5414/CN108522.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Inês Rosinha, Marta Machado
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
All articles published in the Birth and Growth Medical Journal are Open Access and meet the requirements of funding agencies and academic institutions. Third-party use of published content is permitted under the terms of the Creative Commons Attribution-NonCommercial (CC BY-NC) license. It is the responsibility of authors to obtain permission for reproducing figures, tables, or other materials from previously published works.
Authors must submit a Conflict of Interest statement and an Authorship Form together with their manuscript. A confirmation email will be sent to the corresponding author upon receipt of the submission. Authors are also permitted to deposit their articles in institutional or personal repositories, provided that the original publication in the Birth and Growth Medical Journal is clearly indicated and the terms of the Creative Commons license are respected.
