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A Case of a Young Girl Suffering from Genetically Confirmed Wilson Disease with Orthotopic Liver Transplantation Cover

A Case of a Young Girl Suffering from Genetically Confirmed Wilson Disease with Orthotopic Liver Transplantation

Open Access
|Apr 2023

References

  1. Dorothy A. Kieffer, Valentina Medici, Wilson disease: At the crossroads between genetics and epigenetics-A review of the evidence,Volume 1, Issue 2,2017,Pages 121-130,ISSN 2542-5684, <a href="https://doi.org/10.1016/j.livres.2017.08.003" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1016/j.livres.2017.08.003</a>
  2. E.A. Roberts, M.L. Schilsky, American association for study of liver diseases (AASLD). Diagnosis and treatment of Wilson disease: an update, Hepatology, 47 (2008), pp. 2089-20111
  3. JMS PearceMD, FRCP, Emeritus Consultant Neurologist, Historical note: The Kayser–Fleischer ring, 11 Jul 2019, <a href="https://doi.org/10.47795/XCRJ9055" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.47795/XCRJ9055</a>
  4. Sullivan CA, Chopdar A, Shun-Shin GA. Dense Kayser-Fleischer ring in asymptomatic Wilson’s disease (hepatolenticular degeneration). Br J Ophthalmol 2002;86(1):114. <a href="https://doi.org/10.1136/bjo.86.1.114" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1136/bjo.86.1.114</a>
  5. Scheinberg IH, Sternlieb I. Wilson’s Disease. Vol XXIII Major Problems in Internal Medicine. Philadelphia. WB Saunders 1984
  6. Pandey N, John S. Kayser-Fleischer Ring. [Updated 2022 Jun 21]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK459187/
  7. Sleisenger & Fordtran’s- Gastrointestinal and Liver Disease: Pathophysiology, Diagnosis, Management, Editia a 6-a, 1998, 75.
  8. Boroghina S., Bleahu I., Constantinescu A.- Boala Wilson la copii, www.emcb.ro.
  9. Holmberg CG, Laurell C-B. Investigations in serum copper. II: Isolation of the copper containing protein, and a description of some of its properties. Acta chem. scand 1948;2:550-556. <a href="https://doi.org/10.3891/acta.chem.scand.02-0550" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.3891/acta.chem.scand.02-0550</a>
  10. Walshe JM. Diagnostic significance of reduced serum caeruloplasmin concentration in neurological disease. Mov Disord. 2005; 20(12): 1658-1661. <a href="https://doi.org/10.1002/mds.20628" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1002/mds.20628</a>
  11. Członkowska A, Litwin T, Chabik G. Wilson disease: neurologic features. Handb Clin Neurol. 2017;142:101-119
  12. Verma R, Holla VV, Pandey S, Rizvi I. Multifocal myoclonus as a heralding manifestation of Wilson disease. J Pediatr Neurosci. 2016 Oct-Dec;11(4):358-360
  13. Litwin, T., Bembenek, J., Antos, A. et al. Liver transplantation as a treatment for Wilson’s disease with neurological presentation: a systematic literature review. Acta Neurol Belg 122, 505–518 (2022). <a href="https://doi.org/10.1007/s13760-022-01872-w" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1007/s13760-022-01872-w</a>
  14. Roberts E, Schilsky M (2008) Diagnosis and treatment of Wilson disease: an update. Hepatology 47:2089–2111. <a href="https://doi.org/10.1002/hep.22261" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1002/hep.22261</a>
  15. Bandmann O, Weiss KH, Hedera P (2020) Liver transplant for neurologic Wilson disease: Hope or fallacy? Neurology 94:907–908. <a href="https://doi.org/10.1212/WNL.0000000000009476" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1212/WNL.0000000000009476</a>
  16. European Association For The Study of The Liver Disease (2012) EASL clinical practice guidelines: Wilson’s disease. J Hepatol 56:671-685. <a href="https://doi.org/10.1016/j.jhep.2011.11.007" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1016/j.jhep.2011.11.007</a>
  17. Lankarani KB, Malek-Hosseini SA, Nikeghbalian S, Dehghani M, Pourhashemi M, Kazemi K, Janghorban P, Akbari M, Ghahramani S, Eghtesad B, Moini M, Rahmi Jaberi A, Shamsaifar A, Gholami S, Rahmanian F, Geramizadeh B (2016) Fourteen years of experience of liver transplantation for Wilson’s disease; a report on 107 cases from Shiraz, Iran. PLoS ONE 11:e0167890. <a href="https://doi.org/10.1371/journal.pone.0167890" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1371/journal.pone.0167890</a>
  18. Lo C, Bandmann O. Epidemiology and introduction to the clinical presentation of Wilson disease. Handb Clin Neurol. 2017;142:7-17. doi: <a href="https://doi.org/10.1016/B978-0-444-63625-6.00002-1." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/B978-0-444-63625-6.00002-1.</a> PMID: 28433111.
  19. Ferenci, P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet 120, 151–159 (2006). <a href="https://doi.org/10.1007/s00439-006-0202-5" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1007/s00439-006-0202-5</a>
  20. Ferenci, P., Caca, K., Loudianos, G., Mieli-Vergani, G., Tanner, S., Sternlieb, I. et al. Diagnosis and phenotypic classification of Wilson disease. Final report of the proceedings of the working party at the 8th international meeting on Wilson disease and Menkes disease, Leipzig/Germany, 2001. Liver Int. 23, 139–142 (2003).
  21. Hofer, H., Willheim-Polli, C., Knoflach, P. et al. Correction: Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. J Hum Gene 66, 1199 (2021). <a href="https://doi.org/10.1038/s10038-021-00918-w" target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">https://doi.org/10.1038/s10038-021-00918-w</a>
  22. Beinhardt S, Leiss W, Stättermayer AF, Graziadei I, Zoller H, Stauber R, Maieron A, Datz C, Steindl-Munda P, Hofer H, Vogel W, Trauner M, Ferenci P. Long-term outcomes of patients with Wilson disease in a large Austrian cohort. Clin Gastroenterol Hepatol. 2014 Apr;12(4):683-9. doi: <a href="https://doi.org/10.1016/j.cgh.2013.09.025." target="_blank" rel="noopener noreferrer" class="text-signal-blue hover:underline">10.1016/j.cgh.2013.09.025.</a> Epub 2013 Sep 25. PMID: 24076416.
DOI: https://doi.org/10.2478/inmed-2023-0241 | Journal eISSN: 1220-5818 | Journal ISSN: 1220-5818
Language: English
Page range: 97 - 104
Published on: Apr 15, 2023
Published by: Romanian Society of Internal Medicine
In partnership with: Paradigm Publishing Services
Publication frequency: 4 times per year

© 2023 Alexandra Florentina Stamate, Mădălina Pușa Duna, Vlad Herlea, Denisa Predeţeanu, published by Romanian Society of Internal Medicine
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.