medalphabetМедицинский алфавитMedical alphabet2078-56312949-2807ООО «Альфмед»10.33667/2078-5631-2022-32-47-52medalphabet-2935Research ArticleСтатьиПоздний дебют болезни Вильсона – Коновалова (клинический случай)Clinical case of late manifestation of Wilson's diseasehttps://orcid.org/0000-0001-6814-0454КлочеваЕ. Г.KlochevaE. G.

Клочева Елена Георгиевна, д. м. н., проф. кафедры

Санкт-Петербург

Klocheva Yelena G., DM Sci (habil.), professor at Dept of Neurology n. a. academician S. N. Davidenkov

St. Petersburg

klocheva@mail.ruhttps://orcid.org/0000-0001-9245-8067ГолдобинВ. В.GoldobinV. V.

Голдобин Виталий Витальевич, д. м. н., проф., зав. кафедрой. SPIN: 4344–5782

Санкт-Петербург

Goldobin Vitaliy V., DM Sci (habil.), professor, head of Dept of Neurology n. a. academician S. N. Davidenkov

St. Petersburg

https://orcid.org/0000-0003-0792-3812АлександровМ. В.AlexandrovM. V.

Александров Михаил Владимирович, к. м. н., проф. кафедры

Санкт-Петербург

Alexandrov Mikhail V., PhD Med, professor at Dept of Neurology n. a. academician S. N. Davidenkov

St. Petersburg

https://orcid.org/0000-0003-3307-0083ЧистоваИ. В.ChistovaI. V.

Чистова Инга Викторовна, к. м. н., ассистент кафедры

Санкт-Петербург

Chistova Inga V., PhD Med, assistant at Dept of Neurology n. a. academician S. N. Davidenkov

St. Petersburg

https://orcid.org/0000-0001-8454-8089ПоповскаяЯ. Н.PopovskayaI. N.

Поповская Янина Николаевна, к. м. н., ассистент кафедры

Санкт-Петербург

Popovskaia Ianina N., PhD Med, assistant at Dept of Neurology n. a. academician S. N. Davidenkov

St. Petersburg

https://orcid.org/0000-0001-6688-9277ЖуковаМ. В.ZhukovaM. V.

Жукова Мария Викторовна, к. м. н., ассистент кафедры

Санкт-Петербург

Zhukova Maria V., PhD Med, assistant at Dept of Neurology n. a. academician S. N. Davidenkov

St. Petersburg

Кафедра неврологии имени академика С. Н. Давиденкова ФГБОУ ВО «Северо-Западный государственный медицинский университет имени И. И. Мечникова» Минздрава РоссииРоссияDept of Neurology n. a. academician S. N. Davidenkov I. I. Mechnikov North-Western State Medical UniversityRussian Federation202211012023132Неврология и психиатрия (4)4752Copyright © Клочева Е.Г., Голдобин В.В., Александров М.В., Чистова И.В., Поповская Я.Н., Жукова М.В., 20232023Клочева Е.Г., Голдобин В.В., Александров М.В., Чистова И.В., Поповская Я.Н., Жукова М.В.Klocheva E.G., Goldobin V.V., Alexandrov M.V., Chistova I.V., Popovskaya I.N., Zhukova M.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-alphabet.com/jour/article/view/2935

Представлен клинический случай позднего дебюта болезни Вильсона – Коновалова. Рассмотрены вопросы этиологии, особенности неврологических и соматических проявлений, сложности дифференциальной диагностики при позднем начале заболевания. Особое внимание уделено вопросам диагностики и лечения.

A clinical case of late manifestation of Wilson's disease. Etiology, features of neurological and somatic manifestation of disease, complexity of differential diagnosis in late manifestation of Wilson's disease are considered. Particular attention is paid to methods of diagnosis and treatment.

болезнь Вильсона–Коноваловадифференциальная диагностикапозднее началоWilson's diseasedifferential diagnosislate manifestationReferencesВологжанина Л.Г., Петухова И.В., Щербинина Е.А., Шиляева Н.А. Тромбоцитопеническая «маска» болезни Вильсона – Коновалова. Гастроэнтерология Санкт-Петербурга. 2018. № 4. С. 31.Vologzhanina L.G., Petukhova I.V., Shcherbinina E.A., Shilyaeva N.A. Thrombocytopenic ‘mask\ of Wilson’s – Konovalov disease. Gastroenterology of St. Petersburg. 2018. No. 4. P. 31.Клинические рекомендации. Нарушения обмена меди (болезнь Вильсона). 2021–2022–2023 (30.12.2021). Утверждены Минздравом РФ.Clinical guidelines. Disorders of copper metabolism (Wilson's disease). 2021–2022– 2023 (12/30/2021). Approved by the Ministry of Health of the Russian Federation.Czlonkowska A., Rodo M., Gromadzka G. Late onset Wilson's disease: Therapeutic implications. Mov Disord 2008; 23: 897–899. DOI: 10.1002/mds.21985.Czlonkowska A., Rodo M., Gromadzka G. Late onset Wilson's disease: Therapeutic implications. Mov Disord 2008; 23: 897–899. DOI: 10.1002/mds.21985.Hermann W. Classification and differential diagnosis of Wilson's disease. Ann Transl Med. 2019; 7 (Suppl 2): S63.Hermann W. Classification and differential diagnosis of Wilson's disease. Ann Transl Med. 2019; 7 (Suppl 2): S63.Bandmann O., Wess KH, Kaler S.G. Wilson's disease and other neurological copper disorders. Rewiew. Lancet / Neurology. 2015; Vol. 14. 103–113.Bandmann O., Wess KH, Kaler S.G. Wilson's disease and other neurological copper disorders. Rewiew. Lancet / Neurology. 2015; Vol. 14. 103–113.Amano T., Matsubara Nishida T, Shimakoshi H., Shimoda A., Sugimoto A., et al. Clinically diagnosed late-onset fulminat Wilson's disease without cirrhosis: A case report. World J Gastroenterol. 2018. Vol. 24. P. 290–6.Amano T., Matsubara Nishida T, Shimakoshi H., Shimoda A., Sugimoto A., et al. Clinically diagnosed late-onset fulminat Wilson's disease without cirrhosis: A case report. World J Gastroenterol. 2018. Vol. 24. P. 290–6.Hayashi S., et al. Clinically diagnosed late-onset fulminant Wilson's disease without cirrhosis: A case report. World J Gastroenterol 2018; 24 (2): 290–296.Hayashi S., et al. Clinically diagnosed late-onset fulminant Wilson's disease without cirrhosis: A case report. World J Gastroenterol 2018; 24 (2): 290–296.Moores A., Fox S., Lang A., Hirschfield G. Wilson disease: Canadian perspectives on presentation and outcomes from an adult ambulatory setting. A. Moores. Can J Gastroenterol. 2012. P. 26–33.Moores A., Fox S., Lang A., Hirschfield G. Wilson disease: Canadian perspectives on presentation and outcomes from an adult ambulatory setting. A. Moores. Can J Gastroenterol. 2012. P. 26–33.Žigrai M., Vyskočil M., Tóthová A., Vereš P., Bluska P., Valkovič P. Late-Onset Wilson's Disease. Front. Med. 2020. P. 7–26.Žigrai M., Vyskočil M., Tóthová A., Vereš P., Bluska P., Valkovič P. Late-Onset Wilson's Disease. Front. Med. 2020. P. 7–26.Maziar B., Wong H., Steinbrecher U., Freeman H. Wilson's Disease in an Elderly Patient. Canadian Journal of Gastroenterology. 1995. Vol. 9 (2). P. 78–80. DOI: 10.3389/fmed.2020.00026.Maziar B., Wong H., Steinbrecher U., Freeman H. Wilson's Disease in an Elderly Patient. Canadian Journal of Gastroenterology. 1995. Vol. 9 (2). P. 78–80. DOI: 10.3389/fmed.2020.00026.Taly A.B., Meenakshi-Sundaram S., Sinha S., et al. Wilson's disease: Description of 282 patients evaluated over 3 decades. Medicine (Baltimore) 2007; 86: 112.Taly A.B., Meenakshi-Sundaram S., Sinha S., et al. Wilson's disease: Description of 282 patients evaluated over 3 decades. Medicine (Baltimore) 2007; 86: 112.Akil M., Brewer G.J. Psychiatric and behavioral abnormalities in Wilson's disease. Adv Neurol. 1995; 165–171.Akil M., Brewer G.J. Psychiatric and behavioral abnormalities in Wilson's disease. Adv Neurol. 1995; 165–171.Zimbrean P., Seniow J. Cognitive and psychiatric symptoms of Wilson disease. Hand Clin Neurol. 2017. Vol. 142. P. 121–40.Zimbrean P., Seniow J. Cognitive and psychiatric symptoms of Wilson disease. Hand Clin Neurol. 2017. Vol. 142. P. 121–40.Ferenci P., Czlonkowska A., Stremmel W., Houwen R.,. Rosenberg W., Schilsky M., et al. EASL clinical practice guideline: Wilson's disease. J Hepatol. 2012. Vol. 53. P. 671–85.Ferenci P., Czlonkowska A., Stremmel W., Houwen R.,. Rosenberg W., Schilsky M., et al. EASL clinical practice guideline: Wilson's disease. J Hepatol. 2012. Vol. 53. P. 671–85.Ronald F. Pfeiffer. Wilson's Disease. Semin Neurol. 2007 April; 27 (2): 123–132.Ronald F. Pfeiffer. Wilson's Disease. Semin Neurol. 2007 April; 27 (2): 123–132.Pfeiffer F. Wilson's Disease Ronald. Semin Neurol. 2007 April; 27 (2): 123–132.Pfeiffer F. Wilson's Disease Ronald. Semin Neurol. 2007 April; 27 (2): 123–132.Vrabelova S. Mutation analysis of the ATP7B gene and genotype / phenotype correlation in 227 patients with Wilson's disease. Mol Genet Metab. 2005. Vol. 86. P. 277–285.Vrabelova S. Mutation analysis of the ATP7B gene and genotype / phenotype correlation in 227 patients with Wilson's disease. Mol Genet Metab. 2005. Vol. 86. P. 277–285.Das S.K., Ray K. Wilson's disease: An update. Nat Clin Pract Neurol 2006; 2: 482–493.Das S.K., Ray K. Wilson's disease: An update. Nat Clin Pract Neurol 2006; 2: 482–493.Овчинников А. В. Магнитно-резонансная томография в диагностике гепатолентикулярной дегенерации. Тихоокеанский медицинский журнал. 2014. № 4. C. 88–92.Ovchinnikov A.V. Magnetic resonance imaging in the diagnosis of hepatolenticular degeneration. Pacific Medical Journal. 2014. No. 4. P. 88–92.Шантуров В.А., Овчинников А.В., Шпрах В.В. МРТ показатели в диагностике гепатолентикулярной дегенерации. ЭНИ Забайкальский медицинский вестник, 2016. № 3. С. 80.Shanturov V.A., Ovchinnikov A.V., Shprakh V.V. MRI indicators in the diagnosis of hepatolenticular degeneration. ENI Transbaikal Medical Bulletin, 2016. No. 3. P. 80.X.-E. Yu, S. Gao, R.-M. Yang, Y.-Z. Han. MR Imaging of the Brain in Neurologic Wilson Disease. American Journal of Neuroradiology. 2019, 40 (1) 178–183. DOI: https://doi.org/10.3174/ajnr.A5936.X.-E. Yu, S. Gao, R.-M. Yang, Y.-Z. Han. MR Imaging of the Brain in Neurologic Wilson Disease. American Journal of Neuroradiology. 2019, 40 (1) 178–183. DOI: https://doi.org/10.3174/ajnr.A5936.

The authors declare that there are no conflicts of interest present.