Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease

Wilson disease (WD) is a complex disease in which diagnosis and long-term metabolic copper control remains challenging. The absence of accurate biomarkers requires the combination of different parameters to ensure copper homeostasis. Exchangeable copper and its ratio (REC) have been suggested to be...

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Autores: Mariño Z, Molera-Busoms C, Badenas C, Quintero-Bernabeu J, Torra M, Forns X, Artuch R
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2023
País:España
Institución:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p23626
Acceso en línea:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=23626
Access Level:acceso abierto
Palabra clave:exchangeable copper
labile copper
non-ceruloplasmin bound copper
REC
serum biomarkers
Wilson disease
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spelling Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson diseaseMariño ZMolera-Busoms CBadenas CQuintero-Bernabeu JTorra MForns XArtuch Rexchangeable copperlabile coppernon-ceruloplasmin bound copperRECserum biomarkersWilson diseaseWilson disease (WD) is a complex disease in which diagnosis and long-term metabolic copper control remains challenging. The absence of accurate biomarkers requires the combination of different parameters to ensure copper homeostasis. Exchangeable copper and its ratio (REC) have been suggested to be useful biomarkers in this setting. We aimed at introducing these measurements and evaluate their performance and accuracy in our real-world cohort of WD patients. Exchangeable copper and REC were measured in 48 WD patients and 56 control individuals by inductively coupled plasma-mass-spectrometry. Demographic and clinical characteristics were collected. REC was shown to be significantly higher among WD patients compared to controls and useful for WD identification by using the previously established cutoffs: 71.4% of WD patients with a recent diagnosis had REC >= 18.5% and 95.1% of long-term treated WD had REC >= 14%; only four patients of the cohort presented discordant levels. Moreover, REC values were below 15% in all the control individuals. Exchangeable copper was significantly higher in WD patients compared to controls and tended to be reduced among WD patients who were compliant to medication. This real-life study confirmed that exchangeable copper and REC are useful serum biomarkers that can be used as complementary tests to ensure WD diagnosis (REC) and copper homeostasis whithin time (exchangeable copper). The desirable target levels for this last objective still needs to be validated in prospective cohorts.WILEY2023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=23626JOURNAL OF INHERITED METABOLIC DISEASEISSN: 01418955ISSNe: 15732665reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déuinstname:Fundació Sant Joan de DéuInglésinfo:eu-repo/semantics/openAccessoai:fsjd.fundanetsuite.com:p236262026-05-27T12:37:41Z
dc.title.none.fl_str_mv Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease
title Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease
spellingShingle Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease
Mariño Z
exchangeable copper
labile copper
non-ceruloplasmin bound copper
REC
serum biomarkers
Wilson disease
title_short Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease
title_full Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease
title_fullStr Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease
title_full_unstemmed Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease
title_sort Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease
dc.creator.none.fl_str_mv Mariño Z
Molera-Busoms C
Badenas C
Quintero-Bernabeu J
Torra M
Forns X
Artuch R
author Mariño Z
author_facet Mariño Z
Molera-Busoms C
Badenas C
Quintero-Bernabeu J
Torra M
Forns X
Artuch R
author_role author
author2 Molera-Busoms C
Badenas C
Quintero-Bernabeu J
Torra M
Forns X
Artuch R
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv exchangeable copper
labile copper
non-ceruloplasmin bound copper
REC
serum biomarkers
Wilson disease
topic exchangeable copper
labile copper
non-ceruloplasmin bound copper
REC
serum biomarkers
Wilson disease
description Wilson disease (WD) is a complex disease in which diagnosis and long-term metabolic copper control remains challenging. The absence of accurate biomarkers requires the combination of different parameters to ensure copper homeostasis. Exchangeable copper and its ratio (REC) have been suggested to be useful biomarkers in this setting. We aimed at introducing these measurements and evaluate their performance and accuracy in our real-world cohort of WD patients. Exchangeable copper and REC were measured in 48 WD patients and 56 control individuals by inductively coupled plasma-mass-spectrometry. Demographic and clinical characteristics were collected. REC was shown to be significantly higher among WD patients compared to controls and useful for WD identification by using the previously established cutoffs: 71.4% of WD patients with a recent diagnosis had REC >= 18.5% and 95.1% of long-term treated WD had REC >= 14%; only four patients of the cohort presented discordant levels. Moreover, REC values were below 15% in all the control individuals. Exchangeable copper was significantly higher in WD patients compared to controls and tended to be reduced among WD patients who were compliant to medication. This real-life study confirmed that exchangeable copper and REC are useful serum biomarkers that can be used as complementary tests to ensure WD diagnosis (REC) and copper homeostasis whithin time (exchangeable copper). The desirable target levels for this last objective still needs to be validated in prospective cohorts.
publishDate 2023
dc.date.none.fl_str_mv 2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=23626
url https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=23626
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv WILEY
publisher.none.fl_str_mv WILEY
dc.source.none.fl_str_mv JOURNAL OF INHERITED METABOLIC DISEASE
ISSN: 01418955
ISSNe: 15732665
reponame:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname:Fundació Sant Joan de Déu
instname_str Fundació Sant Joan de Déu
reponame_str r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
collection r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
repository.name.fl_str_mv
repository.mail.fl_str_mv
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