2026 / 03

DOI: 10.24075/brsmu.2026.027
Copyright: © 2026 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).

CLINICAL CASE

The clinical course of Wilson's disease and treatment adherence

Tuluzanovskaya IG1 , Balashova MS1,2 , Senina OS1 , Sizyakova OM1 , Leisan kyzy Huseynova G1 , Mamadshoeva NM1 , Rozina TP1,3 , Zhuchenko NA1
About authors

1 Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia

2 Petrovsky National Research Centre of Surgery, Moscow, Russia

3 Lomonosov Moscow State University, Moscow, Russia

Correspondence should be addressed: Inna G. Tuluzanovskaya
Elanskogo, 2, str. 2, 119435, Moscow, Russia; ur.liam@77t_anni

About paper

Author contribution: Tuluzanovskaya IG — patient supervision, literature analysis, article authoring; Balashova MS — literature analysis, article editing; Senina OS, Sizyakova OM, Leisan kyzy Huseynova G, Mamadshoeva NM — data processing, literature analysis; Rozina TP — patient supervision, article editing; Zhuchenko NA — article editing.

Compliance with ethical standards: all participants or their legal representatives provided written informed consent to participate in the study.

Received: 2026-04-13 Accepted: 2026-05-07 Published online: 2026-06-09
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  1. Ovchinnikova EV, Garbuz MM, Ovchinnikova AA, Kumeiko VV. Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions. Int J Mol Sci. 2024; 25 (4): 2402. DOI: 10.3390/ijms25042402.
  2. Narusheniya obmena medi (bolezn Vil'sona). Klinicheskie rekomendatsii. Ministerstvo zdravookhraneniya Rossiiskoi Federatsii. 2024; p. 79. Russian.
  3. Tang S, Hou W, Zheng SJ. [Recommendations from the European Association for the Study of the Liver and the European Reference Network for Rare Liver Diseases Clinical Practice Guidelines for hepatolenticular degeneration]. Zhonghua Gan Zang Bing Za Zhi. 2025; 33 (10): 988–92. DOI: 10.3760/cma.j.cn501113-20250408-00130.
  4. Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, et al. Wilson disease. Nature Reviews Disease Primers. 2018; 4 (1): 21. DOI: 10.1038/s41572-018-0018-3.
  5. Masełbas W, Członkowska A, Litwin T, Niewada M. Persistence with treatment for Wilson disease: a retrospective study. BMC Neurol. 2019; 19 (1): 278. DOI: 10.1186/s12883-019-1502-4.
  6. Lee DU, Harmacinski A, Bahadur A, Lee KJ, Chou H, Shaik MR, et al. The cost implications of Wilson disease among hospitalized patients: analysis of USA hospitals. Eur J Gastroenterol Hepatol. 2024; 36 (7): 929–40. DOI: 10.1097/MEG.0000000000002777.
  7. Im DE, Kang HY. Epidemiologic features and economic burden of Wilson's disease in South Korea: a nationwide analysis of the entire patient population. Sci Rep. 2025; 15 (1): 23271. DOI: 10.1038/s41598-025-06630-5.
  8. Couchonnal E, Bouchard N, Poupon J, et al. Genotype–phenotype correlations in a large cohort of Wilson disease patients in France. J Hepatol. 2024; 80 (3): 416–25. DOI: 10.1016/j.jhep.2023.11.020.
  9. Ferenci P, Stremmel W, Członkowska A, Szalay F, Viveiros A, Stättermayer AF, et al. Age and sex but not ATP7B genotype effectively influence the clinical phenotype of Wilson disease. Hepatology. 2019; 69 (4): 1464–81. DOI: 10.1002/hep.30280.
  10. Stättermayer AF, et al. Genetic modifiers of clinical presentation in Wilson disease. Hepatology. 2022; 75 (4): 912–23. DOI: 10.1002/hep.32214.
  11. Medici V, Cazzagon N, Battezzati PM, Crosignani A, Civolani A, Bonaiuto E, et al. Adherence, satisfaction, and quality of life in Wilson disease patients after switching to trientine tetrahydrochloride: observational data from a dual cohort study. Front Pharmacol. 2025; 16: 1515686. DOI: 10.3389/fphar.2025.1515686.
  12. Taly AB, Khandelwal S, Kumar S, et al. Wilson disease: clinical presentation and outcome in children. Indian Pediatr. 2004; 41 (10): 1037–43. DOI: 10.1007/BF02731336.
  13. Dzieżyc K, Milkiewicz P, Wierzbicka M, et al. Liver transplantation in Wilson disease: long-term results in a single center. Transplant Proc. 2015; 47 (4): 991–4. DOI: 10.1016/j.transproceed.2015.02.056.
  14. Dhawan A, Hadžić N, Mieli-Vergani G, et al. King’s College Hospital prognostic index for Wilson disease with hepatic failure. Hepatology. 2005; 42 (6): 1357–63. DOI: 10.1002/hep.21167.
  15. Stättermayer AF, Traussnigg S, Dienes HP, et al. Fulminant Wilson’s disease: liver transplantation and clinical outcome. Liver Transpl. 2013; 19 (10): 1116–25. DOI: 10.1002/lt.26651.
  16. Murillo O, Moreno D, Gazquez C, et al. Liver Expression of a MiniATP7B Gene Results in Long-Term Restoration of Copper Homeostasis in a Wilson Disease Model in Mice. Hepatology. 2019; 70 (1): 108–26. DOI: 10.1002/hep.30535.