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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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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
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author Cao, Christopher
Colangelo, Timothy
Dhanekula, Raja Koteswar
Brandt, Daniel
Laothamatas, Indira
Thapar, Manish
Herrine, Steven K.
Civan, Jesse M.
author_facet Cao, Christopher
Colangelo, Timothy
Dhanekula, Raja Koteswar
Brandt, Daniel
Laothamatas, Indira
Thapar, Manish
Herrine, Steven K.
Civan, Jesse M.
author_sort Cao, Christopher
collection PubMed
description 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.
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spelling pubmed-66580152019-10-16 A Rare Case of Wilson Disease in a 72-Year-Old Patient Cao, Christopher Colangelo, Timothy Dhanekula, Raja Koteswar Brandt, Daniel Laothamatas, Indira Thapar, Manish Herrine, Steven K. Civan, Jesse M. ACG Case Rep J Case Report 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. Wolters Kluwer 2019-03-08 /pmc/articles/PMC6658015/ /pubmed/31620489 http://dx.doi.org/10.14309/crj.0000000000000024 Text en © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Case Report
Cao, Christopher
Colangelo, Timothy
Dhanekula, Raja Koteswar
Brandt, Daniel
Laothamatas, Indira
Thapar, Manish
Herrine, Steven K.
Civan, Jesse M.
A Rare Case of Wilson Disease in a 72-Year-Old Patient
title A Rare Case of Wilson Disease in a 72-Year-Old Patient
title_full A Rare Case of Wilson Disease in a 72-Year-Old Patient
title_fullStr A Rare Case of Wilson Disease in a 72-Year-Old Patient
title_full_unstemmed A Rare Case of Wilson Disease in a 72-Year-Old Patient
title_short A Rare Case of Wilson Disease in a 72-Year-Old Patient
title_sort rare case of wilson disease in a 72-year-old patient
topic Case Report
url 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
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