Tom 16, Nr 4 (2020)
Wytyczne / stanowisko ekspertów
Opublikowany online: 2021-01-11
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Eksport do Mediów Społecznościowych

Eksport do Mediów Społecznościowych

Leczenie choroby Wilsona — aktualne zalecenia

Agnieszka Antos1, Tomasz Litwin1, Marta Skowrońska1, Iwona Kurkowska-Jastrzębska1, Anna Członkowska1
DOI: 10.5603/PPN.2020.0033
Pol. Przegl. Neurol 2020;16(4):223-238.

Streszczenie

Choroba Wilsona (WD, Wilson’s disease) jest schorzeniem genetycznym związanym z patologicznym odkładaniem miedzi w wielu narządach (głównie wątroba, mózg i rogówka), z objawami klinicznymi w zależności od uszkodzonych tkanek i narządów. Głównym celem leczenia WD jest przywrócenie prawidłowego lub wytworzenie negatywnego bilansu miedzi w organizmie przez stosowanie leków (leki chelatujące lub sole cynku) lub przeszczepienie wątroby. Dodatkowo ze względu na dominujące objawy kliniczne choroby w terapii pacjentów z WD stosuje się często leczenie objawowe, głównie hepatologiczne, neurologiczne i psychiatr yczne. Ze względu na działania niepożądane leków stosowanych (do 30% pacjentów), pogorszenie neurologiczne (do 10% pacjentów) oraz utrzymywanie się objawów neuropsychiatrycznych (do 50% pacjentów) leczenie WD jest ciągle analizowane zarówno pr zez eksper tów, jak i towarzystwa naukowe. Poszukiwane są również nowe, bardziej skuteczne i bezpieczniejsze leki i terapie (genowa, przeszczepienia komórek wątrobowych). W artykule przedstawiono aktualne zalecenia towarzystw hepatologicznych dotyczące leczenia WD opracowane przez American Association for the Study of Liver Diseases (AASLD), European Association for the Study of the Liver (EASL) i European Society for Pediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) oraz dane dotyczące leczenia objawowego WD opracowane na podstawie dostępnej literatury.

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Referencje

  1. European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol. 2012; 56(3): 671–685.
  2. Roberts EA, Schilsky ML. American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology. 2008; 47(6): 2089–2111.
  3. Członkowska A, Litwin T, Dusek P, et al. Wilson disease. Nat Rev Dis Primers. 2018; 4(1).
  4. Członkowska A, Litwin T. Wilson disease — currently used anticopper therapy. Handb Clin Neurol. 2017; 142: 181–191.
  5. Zhang J, Xiao L, Yang W. Combined sodium dimercaptopropanesulfonate and zinc versus D-penicillamine as first-line therapy for neurological Wilson's disease. BMC Neurol. 2020; 20(1): 255.
  6. Chen D, Zhou X, Hou H, et al. Clinical efficacy of combined sodium dimercaptopropanesulfonate and zinc treatment in neurological Wilson's disease with D-penicillamine treatment failure. Ther Adv Neurol Disord. 2016; 9(4): 310–316.
  7. Liu J, Luan J, Zhou X, et al. Epidemiology, diagnosis, and treatment of Wilson's disease. Intractable Rare Dis Res. 2017; 6(4): 249–255.
  8. Weiss KH, Gotthardt DN, Klemm D, et al. Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease. Gastroenterology. 2011; 140(4): 1189–1198.e1.
  9. Członkowska A, Tarnacka B, Litwin T, et al. Wilson's disease-cause of mortality in 164 patients during 1992-2003 observation period. J Neurol. 2005; 252(6): 698–703.
  10. Dzieżyc K, Karliński M, Litwin T, et al. Compliant treatment with anti-copper agents prevents clinically overt Wilson's disease in pre-symptomatic patients. Eur J Neurol. 2014; 21(2): 332–337.
  11. Litwin T, Dusek P, Skowrońska M, et al. Treatment of Wilson’s disease — an update. Expert Opin Orphan Drugs. 2019; 7(6): 287–294.
  12. Russell K, Gillanders LK, Orr DW, et al. Dietary copper restriction in Wilson's disease. Eur J Clin Nutr. 2018; 72(3): 326–331.
  13. Abou Zeid C, Kaler SG. Normal human copper metabolism. In: Weiss KH, Schilsky M. ed. Wilson disease: pathogenesis, molecular mechanisms, diagnosis, treatment and monitoring. Academic Press, Cambridge 2019: 17–22.
  14. Litwin T, Członkowska A, Socha P. Oral chelator treatment of Wilson disease: D-penicylamine. In: Kerkar N, Roberts EA. ed. Clinical and translational perspectives on Wilson disease. Academic Press, Cambridge 2019: 357–364.
  15. Socha P, Janczyk W, Dhawan A, et al. Wilsons’ disease in children: a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. JPGN. 2018; 66: 334–344.
  16. Członkowska A, Tarnacka B, Möller JC, et al. Unified wilson’s disease rating scale — proposal for the neurological scoring of wilson’s diseases patients. Neurol Neurochir Pol. 2007; 41(1): 1–12.
  17. Walshe JM. Management of penicillamine nephropathy in Wilson's disease: a new chelating agent. Lancet. 1969; 2(7635): 1401–1402.
  18. Członkowska A, Litwin T, Karliński M, et al. D-penicillamine versus zinc sulfate as first-line therapy for Wilson's disease. Eur J Neurol. 2014; 21(4): 599–606.
  19. Litwin T, Dzieżyc K, Karliński M, et al. Early neurological worsening in patients with Wilson's disease. J Neurol Sci. 2015; 355(1-2): 162–167.
  20. Rupp C, Weiss KH. Oral chelator treatment of Wilson disease: Treintine. In: Kerkar N, Roberts EA. ed. Clinical and translational perspectives on Wilson disease. Academic Press, Cambridge 2019: 365–372.
  21. Petrukin VE. Synthesis and properties of dimercapto derivatives of alkylsulfonic acids. Ukr Khem Zh. 1956; 22: 603–607.
  22. Roberts EA. Treatment of Wilson disease with zinc salts. In: Kerkar A, Roberts EA. ed. Clinical and translational perspectives on Wilson disease. Academic Press, Cambridge 2019: 373–381.
  23. Schilsky ML. New treatment modalities in Wilson disease. In: Kerkar N, Roberts EA. ed. Clinical and translational perspectives on Wilson disease. Academic Press, Cambridge 2019: 399–405.
  24. Brewer GJ. The modern treatment of Wilson’s disease. J Gastrointest Digestive Syst. 2015; 5: 312.
  25. Litwin T, Dusek P, Czlonkowska A. Neurological manifestations in Wilson’s disease — possible treatment options for symptoms. Expert Opin Orphan Drugs. 2016; 4(7): 719–728.
  26. Pfeiffenberger J, Weiss KH, Stremmel W. Wilson disease: symptomatic liver therapy. Handb Clin Neurol. 2017; 142: 205–209.
  27. Ahmad A, Torrazza-Perez E, Schilsky ML. Liver transplantation for Wilson disease. Handb Clin Neurol. 2017; 142: 193–204.
  28. Litwin T, Dusek P, Szafrański T, et al. Psychiatric manifestations in Wilson's disease: possibilities and difficulties for treatment. Ther Adv Psychopharmacol. 2018; 8(7): 199–211.
  29. Dusek P, Litwin T, Członkowska A, et al. Symptomatic treatment of neurologic symptoms in Wilson disease. Handb Clin Neurol. 2017; 142(Suppl 2): 211–223.
  30. Kalita J, Kumar V, Ranjan A, et al. Worsening of Wilson disease following penicillamine therapy. Eur Neurol. 2014; 71(3-4): 126–131.
  31. Brewer GJ, Terry CA, Aisen AM, et al. Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol. 1987; 44(5): 490–493.
  32. Kim B, Chung SJu, Shin HW. Trientine-induced neurological deterioration in a patient with Wilson's disease. J Clin Neurosci. 2013; 20(4): 606–608.
  33. Zimbrean PC, Schilsky ML. The spectrum of psychiatric symptoms in Wilson's disease: treatment and prognostic considerations. Am J Psychiatry. 2015; 172(11): 1068–1072.
  34. Zimbrean PC, Schilsky ML. Psychiatric aspects of Wilson disease: a review. Gen Hosp Psychiatry. 2014; 36(1): 53–62.
  35. Rybakowski JK, Litwin T, Chlopocka-Wozniak M, et al. Lithium treatment of a bipolar patient with Wilson's disease: a case report. Pharmacopsychiatry. 2013; 46(3): 120–121.
  36. Litwin T, Gromadzka G, Samochowiec J, et al. Association of dopamine receptor gene polymorphisms with the clinical course of Wilson disease. JIMD Rep. 2013; 8: 73–80.
  37. Chroni E, Lekka NP, Tsibri E, et al. Acute, progressive akinetic-rigid syndrome induced by neuroleptics in a case of Wilson's disease. J Neuropsychiatry Clin Neurosci. 2001; 13(4): 531–532.
  38. Guillaud O, Dumortier J, Sobesky R, et al. Long term results of liver transplantation for Wilson's disease: experience in France. J Hepatol. 2014; 60(3): 579–589.
  39. Stracciari A, Tempestini A, Borghi A, et al. Effect of liver transplantation on neurological manifestations in Wilson disease. Arch Neurol. 2000; 57(3): 384–386.
  40. Weiss KH, Schäfer M, Gotthardt DN, et al. Outcome and development of symptoms after orthotopic liver transplantation for Wilson disease. Clin Transplant. 2013; 27(6): 914–922.
  41. Medici V, Trevisan CP, D'Incà R, et al. Diagnosis and management of Wilson's disease: results of a single center experience. J Clin Gastroenterol. 2006; 40(10): 936–941.
  42. Medici V, Mirante VG, Fassati LR, et al. Monotematica AISF 2000 OLT Study Group. Liver transplantation for Wilson's disease: the burden of neurological and psychiatric disorders. Liver Transpl. 2005; 11(9): 1056–1063.
  43. Yagci MA, Tardu A, Karagul S, et al. Influence of liver transplantation on neuropsychiatric manifestations of Wilson disease. Transplant Proc. 2015; 47(5): 1469–1473.
  44. Dhawan A, Taylor RM, Cheeseman P, et al. Wilson's disease in children: 37-year experience and revised King's score for liver transplantation. Liver Transpl. 2005; 11(4): 441–448.
  45. Poujois A, Sobesky R, Meissner WG, et al. Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease. Neurology. 2020; 94(21): e2189–e2202.
  46. Pfeiffenberger J, Beinhardt S, Gotthardt DN, et al. Pregnancy in Wilson's disease: management and outcome. Hepatology. 2018; 67(4): 1261–1269.
  47. Tarnacka B, Rodo M, Cichy S, et al. Procreation ability in Wilson's disease. Acta Neurol Scand. 2000; 101(6): 395–398.
  48. Solomon L, Abrams G, Dinner M, et al. Neonatal abnormalities associated with D-penicillamine treatment during pregnancy. N Engl J Med. 1977; 296(1): 54–55.
  49. Mjolnerod OK, Dommerud SA, Rasmussen K, et al. Congenital connective-tissue defect probably due to D-penicillamine treatment in pregnancy. Lancet. 1971; 1(7701): 673–675.
  50. Dathe K, Beck E, Schaefer C. Pregnancy outcome after chelation therapy in Wilson disease. Evaluation of the German Embryotox Database. Reprod Toxicol. 2016; 65: 39–45.
  51. Reuner U, Dinger J. Pregnancy and Wilson disease: management and outcome of mother and newborns-experiences of a perinatal centre. Ann Transl Med. 2019; 7(Suppl 2): S56.
  52. Roberts EA, Socha P. Wilson disease in children. Handb Clin Neurol. 2017; 142: 141–156.
  53. Bruha R, Marecek Z, Pospisilova L, et al. Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation. Liver Int. 2011; 31(1): 83–91.
  54. Merle U, Schaefer M, Ferenci P, et al. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut. 2007; 56(1): 115–120.
  55. Svetel M, Pekmezović T, Petrović I, et al. Long-term outcome in Serbian patients with Wilson disease. Eur J Neurol. 2009; 16(7): 852–857.
  56. Masełbas W, Chabik G, Członkowska A. Persistence with treatment in patients with Wilson disease. Neurol Neurochir Pol. 2010; 44(3): 260–263.
  57. Masełbas W, Członkowska A, Litwin T, et al. Persistence with treatment for Wilson disease: a retrospective study. BMC Neurol. 2019; 19(1): 278.
  58. Maselbas W, Litwin T, Czlonkowska A. Social and demographic characteristics of a Polish cohort with Wilson disease and the impact of treatment persistence. Orphanet J Rare Dis. 2019; 14(1): 167.