Wilson’s disease: how to delivery timely diagnosis and treatment?
- Authors: Eremina E.Y.1, Strokova O.A.1, Lityushkina M.I.1
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Affiliations:
- N.P. Ogarev National Research Mordovia State University
- Issue: Vol 8, No 7 (2022)
- Pages: 95-101
- Section: Articles
- URL: https://journals.eco-vector.com/2412-4036/article/view/277052
- DOI: https://doi.org/10.18565/therapy.2022.7.95-101
- ID: 277052
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Abstract
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About the authors
Elena Yu. Eremina
N.P. Ogarev National Research Mordovia State University
Email: eeu61@mail.ru
Dr. med. habil., professor, head of the Department of propaedeutics of internal diseases 430005, Saransk, 68 Bol'shevistskaya Str
Olga A. Strokova
N.P. Ogarev National Research Mordovia State University
Email: strokovaoa@rambler.ru
associate professor, associate professor of the Department of propaedeutics of internal diseases 430005, Saransk, 68 Bol'shevistskaya Str
Marina I. Lityushkina
N.P. Ogarev National Research Mordovia State University
Email: litjushkina@rambler.ru
PhD in Medicine, associate professor, associate professor of the Department of propaedeutics of internal diseases 430005, Saransk, 68 Bol'shevistskaya Str
References
- 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).
- 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.
- 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.
- Циммерман Я.С. Болезнь Вильсона - гепатоцеребральная дистрофия. Клиническая медицина. 2017; 95(4): 310-315. http://doi.org/10.18821/0023-2149-2017-95-4-310-315. EDN: YPIAXJ.
- 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.
- 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.
- Wijayasiri P., Hayre J., Nicholson E.S. et al. Estimating the clinical prevalence of Wilson's disease in the UK. JHEP Rep. 2021; 3(5): 100329. https://dx.doi.org/10.1016/j.jhepr.2021.100329.
- 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. https://dx.doi.org/10.1134/S0016675819120026. EDN: PHEVUE.
- 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.
- 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.
- 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
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.C0;2-9.
- 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.
- 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.
- 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.
- Cztonkowska 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.
- 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
- 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.
- 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.
- 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.
- 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.
- Ye X.N., Mao L.P., Lou Y.J. et al. Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.Int J Clin Exp Med. 2015; 8(3): 4708-11.
- 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.
- 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.
- Баязутдинова Г.М., Щагина О.А., Поляков А.В. Мутация c3207C>A гена АТР7В - наиболее частая причина гепатолентикулярной дегенерации в России: частота и причина распространения. Медицинская генетика. 2018; 17(4): 25-30. https://dx.doi.org/10.25557/2073-7998.2018.04.25-30. EDN: OTEJAD.
- 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.
- 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.
- 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.
- 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.