[Wilson's disease: overview]. / Enfermedad de Wilson.
Med Clin (Barc)
; 160(6): 261-267, 2023 03 24.
Article
em En, Es
| MEDLINE
| ID: mdl-36697289
ABSTRACT
Wilson'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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Quelantes
/
Cobre
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Degeneração Hepatolenticular
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
/
Es
Ano de publicação:
2023
Tipo de documento:
Article