Carregant...
Fitxers
Tipus de document
ArticleVersió
Versió acceptadaData de publicació
Tots els drets reservats
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/217253
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease
Títol de la revista
Director/Tutor
ISSN de la revista
Títol del volum
Recurs relacionat
Resum
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.
Matèries (anglès)
Citació
Col·leccions
Citació
QUINTERO BERNABEU, Jesús, TORRA, Mercè, FORNS, Xavier, ARTUCH IRIBERRI, Rafael. Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease. _Journal of Inherited Metabolic Disease_. 2023. Vol. 46, núm. 5, pàgs. 982-991. [consulta: 21 de gener de 2026]. ISSN: 0141-8955. [Disponible a: https://hdl.handle.net/2445/217253]