Spot urinary copper/creatinine ratio: a non-invasive tool for diagnosis of Wilson's disease in children.

IF 2.3 4区医学 Q2 PEDIATRICS

BMJ Paediatrics Open Pub Date : 2025-09-04 DOI:10.1136/bmjpo-2025-003718

Fahmida Begum, Amit Kumar Datta, Khan Lamia Nahid, Tahmina Jesmin, Nadira Musabbir, Md Wahiduzzaman Mazumder, Kanij Fatema, Md Rukunuzzaman, Abu Sayd Mohammad Bazlul Karim, Faisal Chowdhury, Mohammad Azmain Iktidar

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Abstract

Diagnosing Wilson's disease (WD) in children remains a significant challenge. This study evaluated spot urinary copper/creatinine (Cu/Cr) ratio for paediatric WD diagnosis in Bangladesh. 60 children (30 WD, 30 non-WD by Leipzig criteria) were enrolled, and the spot morning urinary Cu/Cr and 24-hour urinary copper were measured. The spot Cu/Cr ratio was significantly higher in patients with WD (median 0.2597 vs 0.0101, p<0.001) and correlated strongly with 24-hour urinary copper (r=0.697). A cut-off of 0.01604 yielded 90% sensitivity and specificity (AUC 0.920). Spot urinary Cu/Cr ratio is an accurate, non-invasive tool for paediatric WD diagnosis, particularly in resource-limited settings. These promising initial findings highlight its potential, though further comprehensive validation in larger and diverse populations is essential to confirm its reliability and generalisability.

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