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Blood Based Biomarkers of Central Nervous System Involvement in Wilson’s Disease

Wilson’s disease (WD) is an inherited disorder of copper metabolism with clinical symptoms related to pathological copper accumulation, which are mainly hepatic and/or neuropsychiatric. The disease is potentially treatable with pharmacological agents (chelators or zinc salts). As such, key factors f...

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Autores principales: Antos, Agnieszka, Członkowska, Anna, Bembenek, Jan, Skowronska, Marta, Kurkowska-Jastrzębska, Iwona, Litwin, Tomasz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10177361/
https://www.ncbi.nlm.nih.gov/pubmed/37174946
http://dx.doi.org/10.3390/diagnostics13091554
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author Antos, Agnieszka
Członkowska, Anna
Bembenek, Jan
Skowronska, Marta
Kurkowska-Jastrzębska, Iwona
Litwin, Tomasz
author_facet Antos, Agnieszka
Członkowska, Anna
Bembenek, Jan
Skowronska, Marta
Kurkowska-Jastrzębska, Iwona
Litwin, Tomasz
author_sort Antos, Agnieszka
collection PubMed
description Wilson’s disease (WD) is an inherited disorder of copper metabolism with clinical symptoms related to pathological copper accumulation, which are mainly hepatic and/or neuropsychiatric. The disease is potentially treatable with pharmacological agents (chelators or zinc salts). As such, key factors for a favorable treatment outcome are early diagnosis and anti-copper treatment initiation as well as appropriate treatment monitoring for safety and efficacy. Despite the generally favorable outcome in most treated patients, almost 10% of the general population of WD patients and about 25% of patients in the group with initial neurological phenotype of disease experience early neurological deterioration. In almost 50% of patients with neurological symptoms, the symptoms persist. A search for new treatment modalities (e.g., gene therapy, molybdenum salts) aims to prevent early neurological deterioration as well as improve treatment outcomes. In addition to evaluating the clinical signs and symptoms of the disease, serum biomarkers for diagnosis and treatment monitoring are very important for WD management. Sensitive serum biomarkers of copper metabolism and liver injury are well described. However, there is a need to establish blood-based biomarkers of central nervous system (CNS) injury to help identify patients at risk of early neurological deterioration and aid in their monitoring. Based on the available literature and studies of WD patients, the authors reviewed serum biomarkers of CNS involvement in WD, as well as their potential clinical significance.
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spelling pubmed-101773612023-05-13 Blood Based Biomarkers of Central Nervous System Involvement in Wilson’s Disease Antos, Agnieszka Członkowska, Anna Bembenek, Jan Skowronska, Marta Kurkowska-Jastrzębska, Iwona Litwin, Tomasz Diagnostics (Basel) Review Wilson’s disease (WD) is an inherited disorder of copper metabolism with clinical symptoms related to pathological copper accumulation, which are mainly hepatic and/or neuropsychiatric. The disease is potentially treatable with pharmacological agents (chelators or zinc salts). As such, key factors for a favorable treatment outcome are early diagnosis and anti-copper treatment initiation as well as appropriate treatment monitoring for safety and efficacy. Despite the generally favorable outcome in most treated patients, almost 10% of the general population of WD patients and about 25% of patients in the group with initial neurological phenotype of disease experience early neurological deterioration. In almost 50% of patients with neurological symptoms, the symptoms persist. A search for new treatment modalities (e.g., gene therapy, molybdenum salts) aims to prevent early neurological deterioration as well as improve treatment outcomes. In addition to evaluating the clinical signs and symptoms of the disease, serum biomarkers for diagnosis and treatment monitoring are very important for WD management. Sensitive serum biomarkers of copper metabolism and liver injury are well described. However, there is a need to establish blood-based biomarkers of central nervous system (CNS) injury to help identify patients at risk of early neurological deterioration and aid in their monitoring. Based on the available literature and studies of WD patients, the authors reviewed serum biomarkers of CNS involvement in WD, as well as their potential clinical significance. MDPI 2023-04-26 /pmc/articles/PMC10177361/ /pubmed/37174946 http://dx.doi.org/10.3390/diagnostics13091554 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Antos, Agnieszka
Członkowska, Anna
Bembenek, Jan
Skowronska, Marta
Kurkowska-Jastrzębska, Iwona
Litwin, Tomasz
Blood Based Biomarkers of Central Nervous System Involvement in Wilson’s Disease
title Blood Based Biomarkers of Central Nervous System Involvement in Wilson’s Disease
title_full Blood Based Biomarkers of Central Nervous System Involvement in Wilson’s Disease
title_fullStr Blood Based Biomarkers of Central Nervous System Involvement in Wilson’s Disease
title_full_unstemmed Blood Based Biomarkers of Central Nervous System Involvement in Wilson’s Disease
title_short Blood Based Biomarkers of Central Nervous System Involvement in Wilson’s Disease
title_sort blood based biomarkers of central nervous system involvement in wilson’s disease
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10177361/
https://www.ncbi.nlm.nih.gov/pubmed/37174946
http://dx.doi.org/10.3390/diagnostics13091554
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