[Establishment of a Noninvasive Diagnostic Model for Wilson Disease Using Metallomics and Machine Learning].

Objective: To analyze the differences in urine metal profiles between patients with Wilson disease (WD) and healthy controls, to identify early diagnostic biomarkers, and to develop a non-invasive diagnostic model using machine learning. Methods: 63 WD patients and 63 matched healthy controls were included. Urine samples and clinical data were collected from all the participants. The concentrations of 51 urine metals were determined using inductively coupled plasma mass spectrometry (ICP-MS). Differences between the two groups were compared using the Wilcoxon signed-rank test. Differential metal features were selected based on detection rates > 50%, Results: Urine metallomics analysis revealed statistically significant differences in the levels of Cu, Zn, Ca, Co, Sr, Ti, Y, Cs, Rb, Cd and Sn between the case and control groups. Cu/Zn, Cu/Se and Zn/Se ratios were significantly higher in the case group. Elastic net regression identified 14 key features, with Cu having the largest standardized regression coefficient ( Conclusion: Urine metallomics analysis indicated that the Cu/Zn ratio obtained superior diagnostic efficiency compared to traditional urine copper test. Additionally, the diagnostic model based on differential metal characteristics demonstrated high accuracy, providing a new method for the early non-invasive diagnosis of WD.