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Pitfalls in diagnosing Wilson’s Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene
Affiliations- Second Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9, 02 957 Warsaw, Poland
open access
Abstract
Abstract
Keywords
Wilson’s Disease, copper, Leipzig score, radioactive copper incorporation test
About this articleTitle
Pitfalls in diagnosing Wilson’s Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene
Journal
Neurologia i Neurochirurgia Polska
Issue
Article type
Letter to the Editors
Pages
478-480
Published online
2020-08-18
Page views
1029
Article views/downloads
1477
DOI
Pubmed
Bibliographic record
Neurol Neurochir Pol 2020;54(5):478-480.
Keywords
Wilson’s Disease
copper
Leipzig score
radioactive copper incorporation test
Authors
Agnieszka Antos
Tomasz Litwin
Marta Skowrońska
Iwona Kurkowska-Jastrzębska
Anna Członkowska
References (12)- European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol. 2012; 56(3): 671–685.
- Członkowska A, Litwin T, Dusek P, et al. Wilson disease. Nat Rev Dis Primers. 2018; 4(1): 21.
- Al-Toma A, Volta U, Auricchio R, et al. European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. United European Gastroenterol J. 2019; 7(5): 583–613.
- Rubin D, Ananthakrishnan A, Siegel C, et al. ACG Clinical Guideline. The American Journal of Gastroenterology. 2019; 114(3): 384–413.
- Gromadzka G, Schmidt HHJ, Genschel J, et al. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease. Mov Disord. 2006; 21(2): 245–248.
- Członkowska A, Rodo M, Wierzchowska-Ciok A, et al. Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease. Liver Int. 2018; 38(10): 1860–1866.
- Ha-Hao D, Merle U, Hofmann C, et al. Chances and shortcomins of adenovirus-mediated ATP7B gene transfer in Wilson disease: proof of principle demonstrated in a pilot study with LEC rats. Z Gastroenterol. 2002; 40(4): 209–216.
- Roy-Chowdhury J, Schilsky ML. Gene therapy of Wilson disease: A "golden" opportunity using rAAV on the 50th anniversary of the discovery of the virus. J Hepatol. 2016; 64(2): 265–267.
- Lo C, Bandmann O. Epidemiology and introduction to the clinical presentation of Wilson disease. Handb Clin Neurol. 2017; 142: 7–17.
- Kluska A, Kulecka M, Litwin T, et al. Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype. Liver Int. 2019; 39(1): 177–186.
- Rubio-Tapia A, Murray JA. Liver involvement in celiac disease. Minerva Med. 2008; 99(6): 595–604.
- Rojas-Feria M, Castro M, Suárez E, et al. Hepatobiliary manifestations in inflammatory bowel disease: the gut, the drugs and the liver. World J Gastroenterol. 2013; 19(42): 7327–7340.
