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

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.

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Main Authors: Mohr, Isabelle (Author) , Lamadé, Patrick (Author) , Weber, Christophe (Author) , Leidner, Viola (Author) , Köhrer, Sebastian (Author) , Olkus, Alexander (Author) , Lang, Matthias (Author) , Langel, Andrea (Author) , Dankert, Patrischia (Author) , Greibich, Melanie (Author) , Wolf, Silke (Author) , Zimmer, Holger (Author) , Michl, Patrick (Author) , Poujois, Aurélia (Author) , Weiss, Karl Heinz (Author) , Merle, Uta (Author)
Format: Article (Journal)
Language:English
Published: 21 January 2025
In: Orphanet journal of rare diseases
Year: 2025, Volume: 20, Pages: 1-11
ISSN:1750-1172
DOI:10.1186/s13023-025-03545-2
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-025-03545-2
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Author Notes:Isabelle Mohr, Patrick Lamade, Christophe Weber, Viola Leidner, Sebastian Köhrer, Alexander Olkus, Matthias Lang, Andrea Langel, Patrischia Dankert, Melanie Greibich, Silke Wolf, Holger Zimmer, Patrick Michl, Aurélia Poujois, Karl Heinz Weiss, and Uta Merle
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Summary: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.
Item Description:Veröffentlicht: 21. Januar 2025
Gesehen am 15.04.2025
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-025-03545-2