• Ana Lucena-Valera, Pilar Ruz-Zafra, and Javier Ampuero.
• Departamento de Enfermedades Digestivas, Hospital Universitario Virgen del Rocío, Sevilla, España.
• Med Clin (Barc). 2023 Mar 24; 160 (6): 261267261-267.

AbstractWilson's disease (WD) is an uncommon hereditary disorder caused by a deficiency in the ATP7B transporter. The protein codified by this gene facilitates the incorporation of the copper into ceruloplasmin. Therefore, WD accumulates copper primary in the liver and secondary in other organs, such as the central nervous system. It represents a wide spectrum of disease, ranging from being asymptomatic in some patients to promote an acute liver failure in others. The diagnosis requires a combination of clinical signs and symptoms, as well as some diagnostic tests such as the measurement of serum ceruloplasmin, the urinary excretion of copper, the liver biopsy or the genetic testing. The treatment must be maintained lifelong and includes some drugs such as chelating agents (penicillamine and trientine) and inhibitors of the copper absorption (zinc salts). Lastly, the liver transplant should be an option for patients with end-stage liver disease.Copyright © 2023 Elsevier España, S.L.U. All rights reserved.

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