A comparative analysis in monitoring 24-hour urinary copper in wilson disease: sampling on or off treatment?

ABSTRACT:

Background & aim

Twenty-four-hour urinary copper excretion (24 h-UCE) is the standard diagnostic tool for dose adjustments in maintenance therapy in Wilson disease (WD) patients. Guidelines lack data if both variants of 24 h-UCE measurement (with or without 48 h of treatment interruption) are equally interpretable.

Methods

Eighty-four patients with a confirmed diagnosis of WD treated with chelators (50% of patients with D-Penicillamine and 50% with trientine) and with pairwise 24-h-UCE values on-therapy and off-therapy were included in the analysis. Pairwise urinary sampling between October 2022 (T0) and a 12-month FU (T2) was compared, and exchangeable copper (CuEXC) was additionally measured at T0.

Results

Among the 84 patients, 65% had predominant hepatic symptoms,

SUBMITTER: Mohr I 

PROVIDER: S-EPMC11748325 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature