Wilson's Disease Presenting in Late Adult Life

Wilson's disease (WD) is an autosomal recessive disease affecting the copper metabolism resulting in various clinical presentations. Diagnosis includes the presence of low serum copper and ceruloplasmin concentrations, increased urinary copper excretion, and/or increased hepatic copper concentr...

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Detalles Bibliográficos
Autores principales: AlDhaleei, Wafa, AlAhmad, Maryam, Alhosani, Ibrahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Single Case
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7923729/
https://www.ncbi.nlm.nih.gov/pubmed/33708062
http://dx.doi.org/10.1159/000512422
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author AlDhaleei, Wafa
AlAhmad, Maryam
Alhosani, Ibrahim
author_facet AlDhaleei, Wafa
AlAhmad, Maryam
Alhosani, Ibrahim
author_sort AlDhaleei, Wafa
collection PubMed
description Wilson's disease (WD) is an autosomal recessive disease affecting the copper metabolism resulting in various clinical presentations. Diagnosis includes the presence of low serum copper and ceruloplasmin concentrations, increased urinary copper excretion, and/or increased hepatic copper concentrations. Yet, genetic testing remains diagnostic. Management includes copper chelating agents and liver transplant in advance cases. We report a case of WD presenting with liver function impairment in late adult life and started on treatment. Therefore, early diagnosis and treatment of WD can prevent related complications.
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spelling pubmed-79237292021-03-10 Wilson's Disease Presenting in Late Adult Life AlDhaleei, Wafa AlAhmad, Maryam Alhosani, Ibrahim Case Rep Gastroenterol Single Case Wilson's disease (WD) is an autosomal recessive disease affecting the copper metabolism resulting in various clinical presentations. Diagnosis includes the presence of low serum copper and ceruloplasmin concentrations, increased urinary copper excretion, and/or increased hepatic copper concentrations. Yet, genetic testing remains diagnostic. Management includes copper chelating agents and liver transplant in advance cases. We report a case of WD presenting with liver function impairment in late adult life and started on treatment. Therefore, early diagnosis and treatment of WD can prevent related complications. S. Karger AG 2021-02-04 /pmc/articles/PMC7923729/ /pubmed/33708062 http://dx.doi.org/10.1159/000512422 Text en Copyright © 2021 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Single Case
AlDhaleei, Wafa
AlAhmad, Maryam
Alhosani, Ibrahim
Wilson's Disease Presenting in Late Adult Life
title Wilson's Disease Presenting in Late Adult Life
title_full Wilson's Disease Presenting in Late Adult Life
title_fullStr Wilson's Disease Presenting in Late Adult Life
title_full_unstemmed Wilson's Disease Presenting in Late Adult Life
title_short Wilson's Disease Presenting in Late Adult Life
title_sort wilson's disease presenting in late adult life
topic Single Case
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7923729/
https://www.ncbi.nlm.nih.gov/pubmed/33708062
http://dx.doi.org/10.1159/000512422
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