A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure

Wilson disease is a hereditary disorder which involves anomalous copper metabolism. Typically, the presentation is systemic, involving vital organs such as the liver, kidney, and brain, among others. We report a unique case presenting with solitary organ involvement as acute liver failure with novel...

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Autores principales: Awan, Rehmat Ullah, Rashid, Shazia, Nabeel, Ambreen, Gangwani, Manesh Kumar, Samant, Hrishikesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911198/
https://www.ncbi.nlm.nih.gov/pubmed/36777461
http://dx.doi.org/10.14309/crj.0000000000000977
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author Awan, Rehmat Ullah
Rashid, Shazia
Nabeel, Ambreen
Gangwani, Manesh Kumar
Samant, Hrishikesh
author_facet Awan, Rehmat Ullah
Rashid, Shazia
Nabeel, Ambreen
Gangwani, Manesh Kumar
Samant, Hrishikesh
author_sort Awan, Rehmat Ullah
collection PubMed
description Wilson disease is a hereditary disorder which involves anomalous copper metabolism. Typically, the presentation is systemic, involving vital organs such as the liver, kidney, and brain, among others. We report a unique case presenting with solitary organ involvement as acute liver failure with novel ATP7B gene mutation, which has never been reported before.
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spelling pubmed-99111982023-02-10 A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure Awan, Rehmat Ullah Rashid, Shazia Nabeel, Ambreen Gangwani, Manesh Kumar Samant, Hrishikesh ACG Case Rep J Case Report Wilson disease is a hereditary disorder which involves anomalous copper metabolism. Typically, the presentation is systemic, involving vital organs such as the liver, kidney, and brain, among others. We report a unique case presenting with solitary organ involvement as acute liver failure with novel ATP7B gene mutation, which has never been reported before. Wolters Kluwer 2023-02-09 /pmc/articles/PMC9911198/ /pubmed/36777461 http://dx.doi.org/10.14309/crj.0000000000000977 Text en © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY) (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Awan, Rehmat Ullah
Rashid, Shazia
Nabeel, Ambreen
Gangwani, Manesh Kumar
Samant, Hrishikesh
A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure
title A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure
title_full A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure
title_fullStr A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure
title_full_unstemmed A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure
title_short A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure
title_sort novel mutation in the atp7b gene: a rare manifestation of wilson disease with liver failure
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9911198/
https://www.ncbi.nlm.nih.gov/pubmed/36777461
http://dx.doi.org/10.14309/crj.0000000000000977
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