Русский
Wilson’s disease: how to delivery timely diagnosis and treatment?
DOI: https://dx.doi.org/10.18565/therapy.2022.7.95-101
Eremina E.Yu., Strokova O.A., Lityushkina M.I.
N.P. Ogarev National Research Mordovia State University, Saransk
Literature
1. Клинические рекомендации. Нарушения обмена меди (болезнь Вильсона). Ассоциация медицинских генетиков, Союз педиатров России, некоммерческое партнерство «Национальное общество по изучению болезни Паркинсона и расстройств движений», Российское трансплантологическое общество, автономная некоммерческая организация «Общество детских гастроэнтерологов, гепатологов и нутрициологов», Национальная ассоциация детских реабилитологов. Рубрикатор клинических рекомендаций Минздрава России. ID: 376. 2021. Доступ: https://cr.minzdrav.gov.ru/schema/376_2 (дата обращения – 01.09.2022). [Clinical guidelines. Disorders of copper metabolism (Wilson’s disease). Association of Medical Geneticists, Union of Pediatricians of Russia, National Society for the Study of Parkinson’s Disease and Movement Disorders, Russian Transplant Society, Society of Pediatric Gastroenterologists, Hepatologists and Nutritionists, National Association of Pediatric Rehabilitologists. Rubricator of clinical guidelines of the Ministry of Healthcare of Russia. ID: 376. 2021.URL: https://cr.minzdrav.gov.ru/schema/376_2 (date of access – 01.09.2022) (In Russ.)]. 2. Liu J., Luan J., Zhou X. et al. Epidemiology, diagnosis, and treatment of Wilson’s disease. Intractable Rare Dis Res. 2017; 6(4): 249–55. https://dx.doi.org/10.5582/irdr.2017.01057. 3. Hahn S.H. Population screening for Wilson’s disease. Ann N Y Acad Sci. 2014; 1315: 64–69. https://dx.doi.org/10.1111/nyas.12423. 4. Циммерман Я.С. Болезнь Вильсона – гепатоцеребральная дистрофия. Клиническая медицина. 2017; 95(4): 310–315. [Тsimmerman Ya.S. Wilson’s disease – hepatocerebral dystrophy. Klinicheskaya meditsina = Clinical medicine. 2017; 95(4): 310–315. (In Russ.)]. http://doi.org/10.18821/0023-2149-2017-95-4-310-315. EDN: YPIAXJ. 5. Chang I.J., Hahn S.H. The genetics of Wilson disease. Handb Clin Neurol. 2017; 142: 19–34.http://doi.org/10.1016/B978-0-444-63625-6.00003-3. 6. Bachmann H., Lossner J., Kuhn H.J. et al. Occurrence, genetics and epidemiology of Wilson´s disease in East Germany. Proc. 5th. Intern. Symposium on Wilson’s disease. In book: Czlonkowska A., van der Hamer C.J.A., editors. Technical Univ Delft. 1991; 121–28. 7. Wijayasiri P., Hayre J., Nicholson E.S. et al. Estimating the clinical prevalence of Wil-son’s disease in the UK. JHEP Rep. 2021; 3(5): 100329. https://dx.doi.org/10.1016/j.jhepr.2021.100329. 8. Баязутдинова Г.М., Щагина О.А., Карунас А.С. с соавт. Спектр мутаций в гене ATP7B у российских больных с болезнью Вильсона–Коновалова. Генетика. 2019; 55(12): 1433–1441. [Bayazutdinova G.M., Shchagina O.A., Karunas A.S. et al. Spectrum of mutations in the ATP7B gene in Russian patients with Wilson’s disease. Genetika = Genetics. 2019; 55(12): 1433–1441 (In Russ.)]. https://dx.doi.org/10.1134/S0016675819120026. EDN: PHEVUE. 9. Ferenci P. Regional distribution of mutations in the ATP7B gene in patients with Wilson disease impact on genetic testing. Hum Genet. 2006; 120(2): 151–59. https://dx.doi.org/10.1007/s00439-006-0202-5. 10. Wilson’s disease: An update on the diagnostic workup and management. J Clin Med. 2021; 10(21): 5097.https://dx.doi.org/10.3390/jcm10215097. 11. Ferenci P., Czlonkowska A., Merle U. et al. Late onset Wilson’s disease. Gastroenterology. 2007; 132(4): 1294–98.https://dx.doi.org/10.1053/j.gastro.2007.02.057 12. Wilson D.C., Phillips M.J., Cox D.W. et al. Severe hepatic Wilson’s disease in preschool-aged children. J Pediatr. 2000; 137(5): 719–22. https://dx.doi.org/10.1067/mpd.2000.108569. 13. Ala A., Borjigin J., Rochwarger A. et al. Wilson’s disease in septuagenarian siblings: Raising the bar for diagnosis. Hepatology. 2005; 41(3): 668–70. https://dx.doi.org/10.1002/hep.20601. 14. Czlonkowska A., Rodo M., Gromadzka G. Late onset Wilson’s disease: Therapeutic implications. Mov Disord. 2008; 23(6): 896–98. https://dx.doi.org/10.1002/mds.21985. 15. Cox D.W., Prat L., Walshe J.M. et al. Twenty-four novel mutations in Wilson’s disease patients of predominantly European ancestry. Hum Mutat. 2005; 26(3): 280. https://dx.doi.org/10.1002/humu.9358. 16. Poujois A., Woimant F. Wilson’s disease: A 2017 update. Clin Res Hepatol Gastroenterol. 2018; 42(6): 512–20.https://dx.doi.org/10.1016/j.clinre.2018.03.007. 17. Xiao H., Deng S., Deng X. et al. Mutation analysis of the ATP7B gene in seven Chinese families with Wilson’s disease. Digestion. 2019; 99(4): 319–26. https://dx.doi.org/ 10.1159/000493314. 18. Thomas G.R., Forbes J.R., Roberts E.A. et al. The Wilson’s disease gene: spectrum of mutations and their consequences. Nat Genet. 1995; 9(2): 210–17. https://dx.doi.org/ 10.1038/ng0295-210. 19. Loudianos G., Dessi V., Lovicu M. et al. Molecular characterization of Wilson’s disease in the Sardinian population – evidence of a founder effect. Hum Mutat. 1999; 14(4): 294–303. https://dx.doi.org/10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9. 20. Gialluisi A., Incollu S., Pippucci Т. et al. The homozygosity index (HI) approach reveals high allele frequency for Wilson’s disease in the Sardinian population. Eur J Hum Genet. 2013; 21(11): 1308–11. https://dx.doi.org/10.1038/ejhg.2013.43. 21. Lutsenko S., Petris M.J. Function and regulation of the mammalian copper–transporting ATPases: Insights from biochemical and cell biological approaches. J Membr Biol. 2003; 191(1): 1–12. https://dx.doi.org/10.1007/s00232-002-1040-6. 22. European Association for Study of Liver. EASL clinical practice guidelines: Wilson’s disease. J Hepatol. 2012; 56(3): 671–85.https://dx.doi.org/10.1016/j.jhep.2011.11.007. 23. 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. https://dx.doi.org/10.1007/s00415-005-0720-4. 24. Palumbo C.S., Schilsky M.L. Clinical practice guidelines in Wilson’s disease. Ann Transl Med. 2019; 7(Suppl 2): S65.https://dx.doi.org/10.21037/atm.2018.12.53 25. Hedera P. Update on the clinical management of Wilson’s disease. Appl Clin Genet. 2017; 10: 9–19. https://dx.doi.org/10.2147/TACG.S79121. 26. Eisenbach C., Sieg O., Stremmel W. et al. Diagnostic criteria for acute liver failure due to Wilson’s disease. World J Gastroenterol. 2007; 13(11): 1711–14. https://dx.doi.org/10.3748/wjg.v13.i11.1711. 27. Litwin T., Dziezyc K., Karlinski M. et al. Early neurological worsening in patients with Wilson’s disease. J Neurol Sci. 2015; 355(1–2): 162–67. https://dx.doi.org/10.1016/j.jns.2015.06.010. 28. Zare E., Mahbubi Z., Panahi M. A neglected case of Wilson’s disease presenting as symptomatic urolithiasis and proteinuria: A case report and review of the literature. Journal of Renal and Hepatic Disorders. 2021; 5(2): 39–44.https://dx.doi.org/10.15586/jrenhep.v5i2.123. 29. Ye X.N., Mao L.P., Lou Y.J. et al. Hemolytic anemia as first presentation of Wilson’s dis-ease with uncommon ATP7B mutation. Int J Clin Exp Med. 2015; 8(3): 4708–11. 30. Grandis D.J., Nah G., Whitman I.R. et al. Wilson’s disease and cardiac myopathy. Am J Cardiol. 2017; 120(11): 2056–60.https://dx.doi.org/10.1016/j.amjcard.2017.08.025. 31. Tarnacka B., Rodo M., Cichy S. et al. Procreation ability in Wilson’s disease. Acta Neurol Scand. 2000; 101(6): 395–98.https://dx.doi.org/10.1034/j.1600-0404.2000.90140a.x. 32. Баязутдинова Г.М., Щагина О.А., Поляков А.В. Мутация с.3207C>A гена АТР7В – наиболее частая причина гепатолентикулярной дегенерации в России: частота и причина распространения. Медицинская генетика. 2018; 17(4): 25–30. [Bayazutdinova G.M., Shchagina O.A., Polyakov A.V. The mutation p. 3207C> A of the ATР7B gene is the most common cause of hepatolenticular degeneration in Russia: frequency and cause of spread. Meditsinskaya genetika = Medical Genetics. 2018; 17(4): 25–30 (In Russ.)]. https://dx.doi.org/10.25557/2073-7998.2018.04.25-30. EDN: OTEJAD. 33. Nagral A., Sarma M.S., Matthai J. et al. Wilson’s disease: Clinical practice guidelines of the Indian National Association for Study of the Liver, the Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition, and the Movement Disorders Society of India. J Clin Exp Hepatol. 2019; 9(1): 74–98. https://dx.doi.org/10.1016/j.jceh.2018.08.009. 34. Appenzeller-Herzog C., Mathes T., Heeres M.L.S. et al. Comparative effectiveness of common therapies for Wilson’s disease: A systematic review and meta-analysis of controlled studies. Liver Int. 2019; 39(11): 2136–52. https://dx.doi.org/10.1111/liv.14179. 35. Alvarez H.M., Xue Y., Robinson C.D. et al. Tetrathiomolybdate inhibits copper trafficking proteins through metal cluster formation. Science. 2010. 327(5963): 331–34. https://dx.doi.org/10.1126/science.1179907. 36. Weiss K.H., Askari F.K., Czlonkowska A. et al. Bischoline tetrathiomolybdate in patients with Wilson’s disease: An open-label, multicentre, phase 2 study. Lancet Gastroenterol Hepatol. 2017; 2(12): 869–76. https://dx.doi.org/10.1016/S2468-1253(17)30293-5.
About the Autors
Elena Yu. Eremina, Dr. med. habil., professor, head of the Department of propaedeutics of internal diseases, N.P. Ogarev National Research Mordovia State University. Address: 430005, Saransk, 68 Bol`shevistskaya Str. E-mail: eeu61@mail.ru
Olga A. Strokova, PhD in Medicine, associate professor, associate professor of the Department of propaedeutics of internal diseases, N.P. Ogarev National Research Mordovia State University. Address: 430005, Saransk, 68 Bol`shevistskaya Str. E-mail: strokovaoa@rambler.ru. ORCID: https://orcid.org/0000-0003-2774-327X
Marina I. Lityushkina, PhD in Medicine, associate professor, associate professor of the Department of propaedeutics of internal diseases, N.P. Ogarev National Research Mordovia State University. Address: 430005, Saransk, 68 Bol`shevistskaya Str. E-mail: litjushkina@rambler.ru. ORCID: https://orcid.org/0000-0002-6098-4158
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