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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2019
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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. |
format | Online Article Text |
id | pubmed-6658015 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer |
record_format | MEDLINE/PubMed |
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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