Volume 28, Issue 2 (Iran South Med J 2025)                   Iran South Med J 2025, 28(2): 634-643 | Back to browse issues page

XML Persian Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Hoseini Ivari S S, Solaimani Moghaddam R. Wilson's Disease: A Case Report. Iran South Med J 2025; 28 (2) :634-643
URL: http://ismj.bpums.ac.ir/article-1-2274-en.html
1- Department of Internal Medicine, School of Medicine, Birjand University of Medical Sciences, Birjand, Iran
2- Social Determinants of Health Research Center, Birjand University of Medical Sciences, Birjand, Iran , rasool.solaimani@yahoo.com
Abstract:   (136 Views)
Background: Wilson's disease is one of the rare autosomal recessive genetic disorders caused by genetic mutation. This disease leads to abnormal copper accumulation in the liver, brain, cornea, and other organs, which can have serious consequences on health.
Case presentation: The patient is a 47-year-old man complaining of memory impairment, hand tremors, dark-colored urine, weakness and loss of appetite, fever and chills, and increased drowsiness. He has a history of heart failure and thalassemia minor in his medical history. Wilson's disease was diagnosed after conducting diagnostic tests and considering the patient's clinical conditions, following the exclusion of other diseases.
Conclusion: Although Wilson's disease is rare, if diagnosed early, it is a potentially treatable and reversible disease, and provides the possibility of pharmacotherapy with early copper removal, which is of high prognostic importance, as the patient may respond better to treatment at this stage.
Full-Text [PDF 342 kb]   (122 Downloads)    
Type of Study: Case Report | Subject: Disorders of Systemic, Metabolic or Environmental Origin
Received: 2025/07/15 | Accepted: 2025/08/31 | Published: 2025/11/22

References
1. Yang Z, Su Y, Liu M, et al. A rare concomitance of Wilson’s disease and systemic lu-pus erythematosus in a teenage girl: A case report and literature review. Front Pediatr 2024; 11: 1296426. [DOI]
2. Balijepalli C, Yan K, Gullapalli L, et al. Quality of life in Wilson’s disease: a systematic literature review. J Health Econ Outcomes Res 2021; 8(2): 105-113. [DOI]
3. Moini M, To U, Schilsky ML. Recent advances in Wilson disease. Transl Gastroenterol Hepatol 2021; 6: 21. [DOI]
4. Gao J, Brackley S, Mann JP. The global prevalence of Wilson disease from next-generation sequencing data. Genet Med 2019; 21(5): 1155-1163. [DOI]
5. Gul B, Firasat S, Tehreem R, et al. Analysis of Wilson disease mutations in copper binding domain of ATP7B gene. Plos one 2022; 17(6): e0269833. [DOI]
6. Dev S, Kruse RL, Hamilton JP, et al. Wilson disease: update on pathophysiology and treatment. Front Cell Dev Biol 2022; 10: 871877. [DOI]
7. Shribman S, Poujois A, Bandmann O, et al. Wilson’s disease: update on pathogenesis, biomarkers and treatments. J Neurol Neurosurg Psychiatry 2021; 92(10): 1053-1061. [DOI]
8. Sandahl TD, Laursen TL, Munk DE, et al. The prevalence of Wilson’s disease: an up-date. Hepatology 2020; 71(2): 722-732. [DOI]
9. Ovchinnikova EV, Garbuz MM, Ovchinnikova AA, et al. Epidemiology of Wilson’s disease and pathogenic variants of the ATP7B gene leading to diversified protein dis-functions. Int J Mol Sci 2024; 25(4): 2402. [DOI]
10. Weiskirchen R. Comprehensive Pharmacological Management of Wilson’s Disease: Mechanisms, Clinical Strategies, and Emerging Therapeutic Innovations. Sci 2025; 7(3): 94. [DOI]
11. Alkhouri N, Gonzalez-Peralta RP, Medici V. Wilson disease: a summary of the updated AASLD Practice Guidance. Hepatol Commun 2023; 7(6): e0150. [DOI]
12. Patel K, Bhayana A, Bagri N, et al. Case series on neuroimaging spectrum of Wilson’s disease: knowing the known and the uncommonly known. Egypt J Radiol Nucl Med 2024; 55(1): 157. [DOI]
13. Ranucci G, Di Dato F, Spagnuolo MI, et al. Zinc monotherapy is effective in Wilson’s disease patients with mild liver disease diagnosed in childhood: a retrospective study. Orphanet J Rare Dis 2014; 9(1): 41. [DOI]
14. Kumar S, Patra BR, Irtaza M, et al. Adverse events with D-penicillamine therapy in he-patic Wilson’s disease: a single-center retrospective audit. Clin Drug Investig 2022; 42(2): 177-184. [DOI]
15. Lee EJ, Woo MH, Moon JS, et al. Efficacy and safety of D-penicillamine, trientine, and zinc in pediatric Wilson disease patients. Orphanet J Rare Dis 2024; 19(1): 261. [DOI]
16. Tang S, Bai L, Hou W, et al. Comparison of the Effectiveness and Safety of d-Penicillamine and Zinc Salt Treatment for Symptomatic Wilson Disease: A Systematic Review and Meta‐Analysis. Front Pharmacol 2022; 13: 847436. [DOI]
17. Mazhar A, Piper MS. Updates on Wilson disease. Clin Liver Dis 2023; 22(4): 117-121. [DOI]
18. Kipker N, Alessi K, Bojkovic M, et al. Neurological-type Wilson disease: epidemiolo-gy, clinical manifestations, diagnosis, and management. Cureus 2023; 15(4): e38170. [DOI]
19. Wang S-j, Geng H, Cheng S-r, et al. A weighted cranial diffusion-weighted imaging scale for Wilson’s disease. Front Neurosci 2023; 17: 1186053. [DOI]
20. Ganaraja V, Holla VV, Pal PK. Current Management of Neurological Wilson’s Disease. Tremor Other Hyperkinet Mov 2025; 15: 17. [DOI]
21. Anushree A, Kumar S, Bhattacharya P, et al. Generalized Dystonia as Presenting Fea-ture of Wilson Disease: A Case Report. Glob Pediatr Health 2023; 10: 2333794X231163418. [DOI]
22. Członkowska A, Litwin T, Dusek P, et al. Wilson disease. Nat Rev Dis Primers 2018; 4(1): 21. [DOI]
23. Schilsky ML, Roberts EA, Bronstein JM, et al. A multidisciplinary approach to the di-agnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology 2023; 77(4): 1428-1455. [DOI]
24. Gromadzka G, Czerwińska J, Krzemińska E, et al. Wilson’s Disease—Crossroads of Genetics, Inflammation and Immunity/Autoimmunity: Clinical and Molecular Issues. Int J Mol Sci 2024; 25(16): 9034. [DOI]
25. Zhan T, Guan Y, Sun C, et al. Assessment and factors affecting quality of life among patients with Wilson’s disease. Sci Rep 2024; 14(1): 8636. [DOI]
26. Litwin T, Członkowska A, Smolinski L. Early neurological worsening in Wilson dis-ease: The need for an evidence-based definition. J Hepatol 2023; 79(6): e241-e242. [DOI]
27. Dusek P, Litwin T, Członkowska A. Neurologic impairment in Wilson disease. Ann Transl Med 2019; 7(Suppl 2): S64. [DOI]
28. Bandmann O, Weiss KH, Kaler SG. Wilson's disease and other neurological copper disorders. Lancet Neurol 2015; 14(1): 103-113. [DOI]
29. Litwin T, Rędzia-Ogrodnik B, Antos A, et al. Brain Magnetic Resonance Imaging in Wilson’s Disease—Significance and Practical Aspects—A Narrative Review. Brain Sci 2024; 14(7): 727. [DOI]
30. Malbul K, Katwal S, Khetan S, et al. A case report on serendipitous diagnosis of wil-son’s disease in a child with brucellosis and pseudomonal infection. Clin Case Rep 2021; 9(6): e04178. [DOI]
31. Cao C, Colangelo T, Dhanekula RK, et al. A rare case of Wilson disease in a 72-year-old patient. ACG Case Rep J 2019; 6(3): 1-3. [DOI]
32. Socha P, Czlonkowska A, Janczyk W, et al. Wilson’s disease-management and long term outcomes. Best Pract Res Clin Gastroenterol 2022; 56: 101768. [DOI]
33. Tazin F, Kumar H, Orlang V. Wilson's Disease Manifestation in Late Adulthood: A Case Report and Literature Review. Cureus 2022; 14(9): e29797. [DOI]
34. Stremmel W, Weiskirchen R. Therapeutic strategies in Wilson disease: pathophysiology and mode of action. Ann Transl Med 2021; 9(8): 732. [DOI]

Send email to the article author


Rights and Permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

© 2025 CC BY-NC 4.0 | Iranian South Medical Journal

Designed & Developed by: Yektaweb