Year 2023 / Volume 115 / Number 10
Editorial
Recent advances in the diagnosis and management of Wilson’s disease

539-541

DOI: 10.17235/reed.2023.9633/2023

Zoe Mariño,

Abstract
In this editorial, the reader will be updated on novel epidemiological, diagnostic, and therapeutical proposals in the field of Wilson disease.
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References
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2. Coffey A, Durkie M, Hague S, et al. A genetic study of Wilson’s disease in the United Kingdom. Brain. 2013;136:1476–87.
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6. Ryan A, Nevitt SJ, Tuohy O, et al. Biomarkers for diagnosis of Wilson’s disease. Cochrane Database Syst Rev. 2019;11(CD012267).
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8. Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003;23(3):139–42.
9. Cauza E, Maier-Dobersberger T, Polli C, et al. Screening for Wilson’s disease in patients with liver diseases by serum ceruloplasmin. J Hepatol. 1997;27(2):358–62.
10. Collins CJ, Yi F, Dayuha R, et al. Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease. Gastroenterology. 2021;160(7):2367–2382.e1.
11. El Balkhi S, Trocello JM, Poupon J, et al. Relative exchangeable copper: A new highly sensitive and highly specific biomarker for Wilson’s disease diagnosis. Clin Chim Acta. 2011;412(23–24):2254–60.
12. El Balkhi S, Trocello JM, Poupon J, et al. Relative exchangeable copper: A new highly sensitive and highly specific biomarker for Wilson’s disease diagnosis. Liver Int 2012 Nov 29;44(1):192–200.
13. Trocello JM, El Balkhi S, Woimant F, et al. Relative exchangeable copper: A promising tool for family screening in Wilson disease. Mov Disord. 2014;29(4):558–62.
14. Guillaud O, Brunet AS, Mallet I, et al. Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease. Liver Int. 2018;38(2):350–7.
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16. Jacquelet E, Poujois A, Pheulpin MC, et al. Adherence to treatment, a challenge even in treatable metabolic rare diseases: A cross sectional study of Wilson’s disease. J Inherit Metab Dis. 2021;44(6):1481–8.
17. del Castillo Busto ME, Cuello-Nunez S, Ward-Deitrich C, et al. A fit-for-purpose copper speciation method for the determination of exchangeable copper relevant to Wilson’s disease. Anal Bioanal Chem. 2022;414(1):561–73.
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20. Sandahl TD, Gormsen LC, Kjærgaard K, et al. The pathophysiology of Wilson’s disease visualized: A human 64Cu PET study. Hepatology. 2022; Jun;75(6):1461-1470
21. Murillo O, Collantes M, Gazquez C, et al. High value of 64Cu as a tool to evaluate the restoration of physiological copper excretion after gene therapy in Wilson’s disease. Mol Ther - Methods Clin Dev. 2022;26:98–106.
22. Weiss KH, Askari FK, Czlonkowska A, et al. Bis-choline tetrathiomolybdate in patients with Wilson ’ s disease : an open-label , multicentre , phase 2 study. Lancet Gastroenterol Hepatol. 2017;2(12):869–76.
23. Weiss KH, Schilsky M, Czlonkowska A, et al. Efficacy and safety of ALXN1840 versus standard of care inWilson disease: primary results from an ongoing phase 3, randomized, controlled, rater-blinded trial. J Hepatol. 2022;77(S1):S1 (Abstract GS001).
24. Foster JR, Billimoria K, del Castillo Busto ME, et al. Accumulation of molybdenum in major organs following repeated oral administration of bis-choline tetrathiomolybdate in the Sprague Dawley rat. J Appl Toxicol. 2022;42(11):1807–21.
25. Murillo O, Moreno D, Gazquez C, et al. Liver Expression of a MiniATP7B Gene Results in Long‐Term Restoration of Copper Homeostasis in a Wilson Disease Model in Mice. Hepatology. 2019; Jul;70(1):108-126
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Mariño Z. Recent advances in the diagnosis and management of Wilson’s disease. 9633/2023


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Publication history

Received: 30/03/2023

Accepted: 08/04/2023

Online First: 19/04/2023

Published: 09/10/2023

Article Online First time: 20 days

Article editing time: 193 days


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