Keywords
child
proteinuria
Dent disease
How to Cite
Abstract
Background: In pediatric patients, proteinuria is a relatively frequent entity that can be physiological or pathological. The second one, due to an alteration at the glomerular level with the loss of large proteins or at the tubular level, characterized mainly by the loss of low molecular weight proteins and changes in the excretion of ions. Among the hereditary diseases that present with tubular proteinuria, Dent disease is a disease linked to the X chromosome. Therefore, it manifests essentially in males, but women can be carriers and have minor clinical manifestations of the disease. Dent and Friedman made the first description of this disease in 1964. Recently, most of the cases have been reported in China and Germany.
Objective: To perform a revision of Dent disease, as well as the diagnostic approach of childhood proteinuria based in our case in order to suspect this disease.
Case description: This is the case of a masculine patient, without relevant prenatal and personal antecedents, the son of a father with polycystic renal disease, who presents persistent proteinuria from the first months of life, and who, at seven years old, the presence of a variant in the CLCN5 gene -causing of type 1 Dent disease- was documented.
Discussion: The persistent pathological proteinuria in childhood must be studied due to its possible relation with pathologies that could affect renal function. Moreover, the differentiation among glomerular and tubular proteinuria can guide us to perform additional studies, including genetic tests to diagnose infrequent pathologies like Dent disease.
Conclusion: The diagnostic approach to rare causes of tubular proteinuria in childhood, such as Dent's disease, requires joint assessment between pediatric nephrology and clinical genetics.
References
Collantes CDL. Izquierdo-García E. Proteinuria. Protocolos de Nefrología de la Asociación Española de Pediatría. 2014;(1):69–79.
Zhang A, Huang S. Progress in pathogenesis of proteinuria. Int J Nephrol. 2012;2012. https://doi.org/10.1155/2012/314251
Bökenkamp A. Proteinuria—take a closer look! Pediatr Nephrol. 2020;35(4):533–41. https://doi.org/10.1007/s00467-019-04454-w
Ariceta G. Clinical practice: Proteinuria. Eur J Pediatr. 2011;170(1):15–20. https://doi.org/10.1007/s00431-010-1334-0
Matos V, van Melle G, Boulat O, Bachmann C, Guignard JP. Urinary phosphate/creatinine, calcium/creatinine, and magnesium/creatinine ratios in a healthy pediatric population. J Pediatr. 1997;131(2):252–7. https://doi.org/10.1016/S0022-3476(97)70162-8
Boyer OG. Evaluation of proteinuria in children [Internet].UpToDate; 2020. Available from: https://www.medilib.ir/uptodate/show/6091
Arslan Z, Koyun M, Erengin H, Akba? H, Aksoy GK, Çomak E, et al. Orthostatic proteinuria: an overestimated phenomenon? Pediatr Nephrol. 2020;35(10):1935–40. https://doi.org/10.1007/s00467-020-04586-4
Huang Y, Yang X, Zhang Y, Yue S, Mei X, Bi L, et al. Correlation of urine protein/creatinine ratios to 24-h urinary protein for quantitating proteinuria in children. Pediatr Nephrol. 2020;35(3):463–8. https://doi.org/10.1007/s00467-019-04405-5
Quigley R. Evaluation of hematuria and proteinuria: How should a pediatrician proceed? Curr Opin Pediatr. 2008;20(2):140–4. https://doi.org/10.1097/MOP.0b013e3282f55f6c
Ehlayel AM, Copelovitch L. Update on Dent Disease. Pediatr Clin North Am [Internet]. 2019;66(1):169–78. Available from: https://doi.org/10.1016/j.pcl.2018.09.003
Igarashi T. Pediatric Fanconi Syndrome. In: Pediatric Nephrology. Seventh ed. Springer; p. 1355–88.
Smith ER, Cai MMX, McMahon LP, Wright DA, Holt SG. The value of simultaneous measurements of urinary albumin and total protein in proteinuric patients. Nephrol Dial Transpl. 2012;27(4):1534–41. https://doi.org/10.1093/ndt/gfr708
Beara-lasic L, Cogal A, Mara K, Enders F, Ramila A, Haskic Z, et al. Prevalence of low molecular weight proteinuria and Dent Disease 1 CLCN5 mutations in proteinuric cohorts. Pediatr Nephrol. 2020;(212). https://doi.org/10.1007/s00467-019-04210-0
Ohisa N, Yoshida K, Matsuki R, Suzuki H, Miura H, Ohisa Y, et al. A Comparison of Urinary Albumin-Total Protein Ratio to Phase-Contrast Microscopic Examination of Urine Sediment for Differentiating Glomerular and Nonglomerular Bleeding. Am J Kidney Dis. 2008;52(2):235–41. https://doi.org/10.1053/j.ajkd.2008.04.014
Scheinman SJ. Dent disease (X-linked recessive nephrolithiasis). UpToDate [Internet]. 2022. Available from: https://nebulosa.icesi.edu.co:2104/contents/dent-disease-x-linked-recessive-nephrolithiasis?search=enfermedad%20de%20dent&source=search_result&selectedTitle=1~22&usage_type=default&display_rank=1
Niaudet P. Cystinosis. UpToDate [Internet]. 2022. Available from: https://nebulosa.icesi.edu.co:2104/contents/cystinosis?search=cystinosis&source=search_result&selectedTitle=1~34&usage_type=default&display_rank=1
Schilsky ML. Wilson disease: Clinical manifestations, diagnosis, and natural history. UpToDate [Internet]. 2022. Available from: https://nebulosa.icesi.edu.co:2104/contents/wilson-disease-clinical-manifestations-diagnosis-and-natural-history?search=enfermedad%20de%20wilson%20&source=search_result&selectedTitle=1~150&usage_type=default&display_rank=1
Govers LP, Toka HR, Hariri A, Walsh SB, Bockenhauer D. Mitochondrial DNA mutations in renal disease: an overview. Pediatr Nephrol. 2021;36(1):9–17. https://doi.org/10.1007/s00467-019-04404-6
Jin YY, Huang LM, Quan XF, Mao JH. Dent disease: classification, heterogeneity and diagnosis. World J Pediatr. 2021;17(1):52–7. https://doi.org/10.1007/s12519-020-00357-1
Blanchard A, Curis E, Guyon-Roger T, Kahila D, Treard C, Baudouin V, et al. Observations of a large Dent disease cohort. Kidney Int. 2016 Aug 1;90(2):430–9. https://doi.org/10.1016/j.kint.2016.04.022
Lamisse Mansour-Hendili, Anne Blanchard, Nelly Le Pottier, Isabelle Roncelin SLourdel. Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. Hum. Mutat. 2015;36(8):743–52. https://doi.org/10.1002/humu.22804
Güngör T, Ero?lu FK, Yaz?l?ta? F, Gür G, Çak?c? EK, Ludwig M, et al. A case of type 1 dent disease presenting with isolated persistent proteinuria. Turk Pediatri Ars. 2020;55(1):72–5. https://doi.org/10.5152%2FTurkPediatriArs.2018.6540
Wen M, Shen T, Wang Y, Li Y, Shi X, Dang X. Next-generation sequencing in early diagnosis of dent disease 1: Two case reports. Front Med (Lausanne). 2018;5(DEC). https://doi.org/10.3389/fmed.2018.00347
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 Fanconi syndrome. BMC Nephrol. 2021;22(1):1–8. https://doi.org/10.1186/s12882-020-02225-6
Deng H, Zhang Y, Xiao H, Yao Y, Zhang H, Liu X, et al. Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease. Mol Genet Genomic Med. 2020;8(8):1–10. https://doi.org/10.1002/mgg3.1306
Lieske JC, Milliner DS, Beara-lasic L, Harris P, Cogal A, Abrash E. Dent Disease. Summary Genetic counseling Diagnosis Suggestive Findings. [Internet]; 2022;1–17. Available from: https://www.ncbi.nlm.nih.gov/sites/books/NBK99494/
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.