Wilson’s disease: modern methods of diagnosis and treatment
- Autores: Khaymenova T.Y.1, Vinnitskaya E.V1, Bakulin I.G2, Shkurko T.V3, Nikitina A.V1
-
Afiliações:
- SBHCI «Moscow Clinical Research and Practical Center» of Moscow Healthcare Department
- FSBEI HE «North-Western State Medical University n.a. I.I. Mechnikov» of RMH
- SBI «SRI of Public Health Organization and Medical Management of Moscow Healthcare Department»
- Edição: Nº 5S (2016)
- Páginas: 81-85
- Seção: Articles
- URL: https://journals.eco-vector.com/2073-4034/article/view/289742
- ID: 289742
Citar
Texto integral
![Acesso aberto](https://journals.eco-vector.com/lib/pkp/templates/images/icons/text_open.png)
![Acesso é fechado](https://journals.eco-vector.com/lib/pkp/templates/images/icons/text_unlock.png)
![Acesso é fechado](https://journals.eco-vector.com/lib/pkp/templates/images/icons/text_lock.png)
Resumo
The article presents data on the etiology, pathogenesis, classification, clinical manifestation and treatment of Wilson’s disease (WD; hepatolenticular degeneration). It is emphasized that the main method of treatment of WD is the use of copper-depleting agents (chelation therapy) and adherence to a strict diet with a reduced amount of copper in the food. The complex case of authors’ clinical observation of WD in 51-year-old man is described. This case illustrates one of the clinical variants of WD characterized by a latent course (up to 20 years), decompensated liver cirrhosis and development of severe neurological symptoms against the background of low adherence to the treatment.
Texto integral
![Acesso é fechado](https://journals.eco-vector.com/lib/pkp/templates/images/icons/text_lock.png)
Sobre autores
T. Khaymenova
SBHCI «Moscow Clinical Research and Practical Center» of Moscow Healthcare Department
E. Vinnitskaya
SBHCI «Moscow Clinical Research and Practical Center» of Moscow Healthcare Department
Email: evinn@mail.ru
MD
I. Bakulin
FSBEI HE «North-Western State Medical University n.a. I.I. Mechnikov» of RMH
T. Shkurko
SBI «SRI of Public Health Organization and Medical Management of Moscow Healthcare Department»
A. Nikitina
SBHCI «Moscow Clinical Research and Practical Center» of Moscow Healthcare Department
Bibliografia
- Huster D. Wilson disease. Best Pract. Res. Clin. Gastroenterol. 2010;24:531-39.
- Reilly M., Daly L., Hutchinson M. An epidemiological study of Wilson's disease in the Republic of Ireland. J. Neurol. Neurosurg. Psychiatry. 1993;56:298-300.
- Merle U., Weiss K., Eisenbach C., Tuma S., Ferenci P., Stremmel W. Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease. BMC Gastroenterol. 2010;10:8.
- Wilson disease mutation database. Available from: http://www.wilsondisease.med. ualberta. ca//database.asp
- Coffey A., Durkie M., Hague S., McLay K., Emmerson J., Lo C., Klaffke S., Joyce C.J., Dhawan A., Hadzic N., Mieli-Vergani G., Kirk R., Elizabeth Allen K., Nicholl D., Wong S., Griffiths W., Smithson S., Giffin N., Taha A., Connolly S., Gillett G.T., Tanner S., Bonham J., Sharrack B., Palotie A., Rattray M., Dalton A., Bandmann O. A genetic study of Wilson's disease in the United Kingdom. Brain. 2013;136(Pt 5):1476-87.
- Petrukhin K., Fischer S.G., Pirastu M., Tanzi R.E., Chernov I., Devoto M., Brzustowicz L.M., Cayanis E., Vitale E., Russo J.J. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene. Nat. Genet. 1993;5(4):338-43.
- Tanzi R.E., Petrukhin K., Chernov I., Pellequer J.L., Wasco W., Ross B., Romano D.M., Parano E., Pavone L., Brzustowicz L.M. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat. Genet. 1993;5(4):344-50.
- Rosencrantz R., Schilsky M. Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment. Semin. Liver Dis. 2011;31:245-59.
- Коновалов Н.В. Гепатолентикулярная дистрофия. M., 1960. 556 с.
- Ferenci P., Czlonkowska A., Merle U., Szalay F., Gromadzka G., Yurdaydin C., Vogel W., Bruha R., Schmidt H.T., Stremmel W. Late onset Wilson disease. Gastroenterology. 2007;132: 1294-98.
- EASL Clinical Practice Guidelines: Wilson's disease. J. Hepatol. 2012;56(3):671-85.
- Голованова Е.В., Лазебник Л.Б., Конев Ю.В., Шапошникова Н.А. Болезнь Вильсона- Коновалова (гепатоцеребральная дистрофия, гепатолентикулярная дегенерация): диагностика, лечение и диспансерное наблюдение. Экспериментальная и клиническая гастроэнтерология. 2015;7:108-11.
- Iorio R., D'Ambrosi M., Mazzarella G., Varrella F., Vecchione R., Vegnente A. Early occurrence of hypertransaminasemia in a 13-month-old child with Wilson disease. J. Pediatr. Gastroenterol. Nutr. 2003;36:637-38.
- Roberts E.A., Schilsky M.L.; American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology 2008;47(6):2089-111.
- Cairns J.E., Williams H.P., Walshe J.M. «Sunflower cataract» in Wilson's disease. Br. Med. J. 1969;3:95-6.
- Przybyikowski A., Gromadzka G., Chabik G., Wierzchowska A., Litwin T., Czionkowska A. Liver cirrhosis in patients newly diagnosed with neurological phenotype of Wilson's disease. Funct. Neurol. 2014;29(1):23-9.
- Lin L., Wang D., Ding N., Zheng C. Hepatic Manifestations in Wilson's Disease: Report of 110 Cases. Hepatogastroenterology. 2015;62(139):657-60.
- Svetel M., Potrebic A., Pekmezovic T., Tomic A., Kresojevic N., Jesic R., Dragasevic N., Kostic V.S. Neuropsychiatric aspects of treated Wilson's disease. Parkinsonism Relat. Disord. 2009;15:772-75.
- Srinivas K., Sinha S., Taly A.B., Prashanth L.K., Arunodaya G.R., Janardhana Reddy Y.C., Khanna S. Dominant psychiatric manifestations in Wilson's disease: a diagnostic and therapeutic challenge! J. Neurol. Sci. 2008;266(1-2): 104-8.
- Corte C.D., Mosca A., Vania A., Alterio A., Anna А., Nobili V. Pediatric liver diseases: current challenges and future perspectives. Expert Rev. Gastroenterol. Hepatol. 2016;10:255-65.
- Wang H., Zhou Z., Hu J., Han Y., Wang X., Cheng N., Wu Y., Yang R. Renal impairment in different phenotypes of Wilson disease. Neurol. Sci. 2015;36(11):2111-15.
- Factor S.M., Cho S., Sternlieb I., Scheinberg I.H., Goldfischer S. The cardiomyopathy of Wilson's disease. Myocardial alterations in nine cases. Virchows Arch. A Pathol. Anat. Histol. 1982;397:301-11.
- Weizman Z., Picard E., Barki Y., Moses S. Wilson's disease associated with pancreatitis. J. Pediatr. Gastroenterol. Nutr. 1988;7:931-33.
- Klee J.G. Undiagnosed Wilson's disease as cause of unexplained miscarriage. Lancet. 1979;2(8139):423.
- Steindl P., Ferenci P., Dienes H.P., Grimm G., Pabinger I., Madl C.H., Maier-Dobersberger T., Herneth A., Dragosics B., Meryn S., Knoflach P., Granditsch G., Gangl A. Wilson's disease in patients presenting with liver disease: a diagnostic challenge. Gastroenterology. 1997;113:212-18.
- Lembowicz K., Kryczka W., Walewska-Zielecka B., Kubicka J. Wilson's disease coexisting with viral hepatitis type C: a case report with histological and ultrastructural studies of the liver. Ultrastruct. Pathol. 1999;23(1):39-44.
- Gaffney D., Fell G., O'Reilly D. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring. J. Clin. Pathol. 2000;53(11):807-12.
- Merle U., Eisenbach C., Weiss K.H., Tuma S., Stremmel W. Serum ceruloplasmin oxidase activity is a sensitive and highly specific diagnostic marker for Wilson's disease. J. Hepatol. 2009;51:925-30.
- Frommer D.J. Urinary copper excretion and hepatic copper concentrations in liver disease. Digestion. 1981;21:169-78.
- van Wassenaer-van Hall H.N., van den Heuvel A.G., Algra A., Hoogenraad T.U., Mali W.P. Wilson disease: findings at MR imaging and CT of the brain with clinical correlation. Radiology. 1996;198:531-36.
- Ferenci P. Wilson's disease. Clin. Gastroenterol. Hepatol. 2005;3:726-33.
- Czionkowska A., Litwin T., Karlinski M., Dziezyc K., Chabik G., Czerska M. D-penicillamine versus zinc sulfate as first-line therapy for Wilson's disease. Eur. J. Neurol. 2014;21(4):599-606.
- Wiggenlinkhuizen M., Tilanus M.E.C., Bollen C.W. Systematic review: clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease. Aliment. Pharmacol. Ther. 2009;29:947-58.
- Hoogenraad T.U., Koevoet R., de Ruyter Korver E.G. Oral zinc sulphate as longterm treatment in Wilson's disease (hepatolenticular degeneration). Eur. Neurol. 1979;18:205-11.
Arquivos suplementares
![](/img/style/loading.gif)