Vol 54, No 5 (2020)
Letter to the Editors
Published online: 2020-08-18

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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

Agnieszka Antos1, Tomasz Litwin1, Marta Skowrońska1, Iwona Kurkowska-Jastrzębska1, Anna Członkowska1
Pubmed: 32808274
Neurol Neurochir Pol 2020;54(5):478-480.

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References

  1. European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol. 2012; 56(3): 671–685.
  2. Członkowska A, Litwin T, Dusek P, et al. Wilson disease. Nat Rev Dis Primers. 2018; 4(1): 21.
  3. 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.
  4. Rubin D, Ananthakrishnan A, Siegel C, et al. ACG Clinical Guideline. The American Journal of Gastroenterology. 2019; 114(3): 384–413.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Lo C, Bandmann O. Epidemiology and introduction to the clinical presentation of Wilson disease. Handb Clin Neurol. 2017; 142: 7–17.
  10. 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.
  11. Rubio-Tapia A, Murray JA. Liver involvement in celiac disease. Minerva Med. 2008; 99(6): 595–604.
  12. 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.