Late-Onset Wilson's Disease
Wilson's disease is a rare autosomal recessive disease, caused by impaired secretion of copper into bile due to a defective function of the ATPase 7B enzyme. Clinical manifestation is predominantly hepatic and neurological. Wilson's disease is traditionally considered a disease of children...
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Published in | Frontiers in medicine Vol. 7; p. 26 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
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06.02.2020
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Abstract | Wilson's disease is a rare autosomal recessive disease, caused by impaired secretion of copper into bile due to a defective function of the ATPase 7B enzyme. Clinical manifestation is predominantly hepatic and neurological. Wilson's disease is traditionally considered a disease of children and young adults. It rarely manifests after 40 years of age. In our case report, we present a 67-year-old female in whom Wilson's disease manifested as tremors of the upper extremities and chin that were originally assessed as part of cerebral atherosclerosis and Parkinson's disease. Only the histological finding of liver steatofibrosis, performed due to suspected metastatic changes of the liver, led in the context of neurological symptoms to correct diagnosis and successful treatment. |
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AbstractList | Wilson's disease is a rare autosomal recessive disease, caused by impaired secretion of copper into bile due to a defective function of the ATPase 7B enzyme. Clinical manifestation is predominantly hepatic and neurological. Wilson's disease is traditionally considered a disease of children and young adults. It rarely manifests after 40 years of age. In our case report, we present a 67-year-old female in whom Wilson's disease manifested as tremors of the upper extremities and chin that were originally assessed as part of cerebral atherosclerosis and Parkinson's disease. Only the histological finding of liver steatofibrosis, performed due to suspected metastatic changes of the liver, led in the context of neurological symptoms to correct diagnosis and successful treatment. |
Author | Valkovič, Peter Tóthová, Andrea Žigrai, Miroslav Vyskočil, Milan Vereš, Peter Bluska, Peter |
AuthorAffiliation | 2 Department of Internal Medicine, Faculty of Medicine, University Hospital - St. Michael's Hospital, Slovak Medical University , Bratislava , Slovakia 5 2nd Department of Neurology, Faculty of Medicine, University Hospital, Comenius University Bratislava , Bratislava , Slovakia 1 1st Department of Internal Medicine, Faculty of Medicine, University Hospital, Slovak Medical University , Bratislava , Slovakia 3 Medicyt, s.r.o. , Bratislava , Slovakia 4 Rádiológia, s.r.o. , Bratislava , Slovakia |
AuthorAffiliation_xml | – name: 3 Medicyt, s.r.o. , Bratislava , Slovakia – name: 2 Department of Internal Medicine, Faculty of Medicine, University Hospital - St. Michael's Hospital, Slovak Medical University , Bratislava , Slovakia – name: 5 2nd Department of Neurology, Faculty of Medicine, University Hospital, Comenius University Bratislava , Bratislava , Slovakia – name: 4 Rádiológia, s.r.o. , Bratislava , Slovakia – name: 1 1st Department of Internal Medicine, Faculty of Medicine, University Hospital, Slovak Medical University , Bratislava , Slovakia |
Author_xml | – sequence: 1 givenname: Miroslav surname: Žigrai fullname: Žigrai, Miroslav organization: 1st Department of Internal Medicine, Faculty of Medicine, University Hospital, Slovak Medical University, Bratislava, Slovakia – sequence: 2 givenname: Milan surname: Vyskočil fullname: Vyskočil, Milan organization: Department of Internal Medicine, Faculty of Medicine, University Hospital - St. Michael's Hospital, Slovak Medical University, Bratislava, Slovakia – sequence: 3 givenname: Andrea surname: Tóthová fullname: Tóthová, Andrea organization: 1st Department of Internal Medicine, Faculty of Medicine, University Hospital, Slovak Medical University, Bratislava, Slovakia – sequence: 4 givenname: Peter surname: Vereš fullname: Vereš, Peter organization: Medicyt, s.r.o., Bratislava, Slovakia – sequence: 5 givenname: Peter surname: Bluska fullname: Bluska, Peter organization: Rádiológia, s.r.o., Bratislava, Slovakia – sequence: 6 givenname: Peter surname: Valkovič fullname: Valkovič, Peter organization: 2nd Department of Neurology, Faculty of Medicine, University Hospital, Comenius University Bratislava, Bratislava, Slovakia |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/32118011$$D View this record in MEDLINE/PubMed |
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Cites_doi | 10.1148/radiology.135.2.7367613 10.1590/S0004-282X1987000200005 10.1002/hep.30280 10.1038/ng1293-344 10.1016/j.jhep.2011.11.007 10.1016/S0016-5085(97)70097-0 10.1212/01.WNL.0000085871.98174.4E 10.1007/BF02014975 10.1016/j.genhosppsych.2013.08.007 10.1016/B978-0-444-63625-6.00011-2 10.1016/S0140-6736(07)60196-2 10.3748/wjg.v24.i2.290 10.1007/s00330-002-1589-6 10.1053/j.gastro.2007.02.057 10.21037/atm.2019.04.27 10.1002/mds.21985 10.1136/jnnp.54.7.624 10.1038/ng1293-327 10.1177/2045125318759461 10.21037/atm.2019.01.67 10.1038/s41572-018-0018-3 |
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Copyright | Copyright © 2020 Žigrai, Vyskočil, Tóthová, Vereš, Bluska and Valkovič. Copyright © 2020 Žigrai, Vyskočil, Tóthová, Vereš, Bluska and Valkovič. 2020 Žigrai, Vyskočil, Tóthová, Vereš, Bluska and Valkovič |
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Keywords | liver metastatic-like changes copper older age Wilson's disease late-onset |
Language | English |
License | Copyright © 2020 Žigrai, Vyskočil, Tóthová, Vereš, Bluska and Valkovič. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
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Notes | Reviewed by: Tomasz Litwin, Institute of Psychiatry and Neurology, Poland; Peter Ferenci, Medical University of Vienna, Austria Edited by: Esther-Lee Marcus, Herzog Hospital, Israel This article was submitted to Geriatric Medicine, a section of the journal Frontiers in Medicine |
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References | Tanzi (B2) 1993; 5 Ferenci (B11) 2007; 132 Akhan (B20) 2002; 12 Bull (B1) 1993; 5 Shribman (B6) 2019; 7 Jacobs (B19) 2003; 61 Ferenci (B3) 2012; 53 Czlonkowska (B10) 2018; 21 Mareček (B4) 1996 Ala (B12) 2007; 369 Sener (B18) 1993; 23 Hitoshi (B17) 1991; 54 Litwin (B7) 2018; 8 Ferenci (B15) 2019; 69 Zimbrean (B9) 2017; 142 Czlonkowska (B14) 2008; 23 Steind (B5) 1997; 113 Harbin (B21) 1980; 135 Medici (B16) 2019; 7 Zimbrean (B8) 2014; 36 Amano (B13) 2018; 24 Cançado (B22) 1987; 45 |
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Title | Late-Onset Wilson's Disease |
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