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A Rare Case of Wilson Disease in a 72-Year-Old Patient

Wilson disease is an autosomal recessive disorder of abnormal copper metabolism that is prevalent in the younger population, rarely presenting in patients older than 40 years. Clinical presentation may be variable, and diagnosis is often aided by clinical and biochemical tests. We report the case of...

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Detalles Bibliográficos
Autores principales: Cao, Christopher, Colangelo, Timothy, Dhanekula, Raja Koteswar, Brandt, Daniel, Laothamatas, Indira, Thapar, Manish, Herrine, Steven K., Civan, Jesse M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658015/
https://www.ncbi.nlm.nih.gov/pubmed/31620489
http://dx.doi.org/10.14309/crj.0000000000000024
Descripción
Sumario:Wilson disease is an autosomal recessive disorder of abnormal copper metabolism that is prevalent in the younger population, rarely presenting in patients older than 40 years. Clinical presentation may be variable, and diagnosis is often aided by clinical and biochemical tests. We report the case of a 72-year-old woman who presented with acute liver failure initially of unclear etiology. Our patient was initially managed for presumed drug-induced liver injury but ultimately diagnosed with Wilson disease on the basis of clinical presentation, laboratory testing, liver biopsy, quantitative hepatic copper, and abnormal genetic testing.