A cross-sectional assessment of the diagnostic value of serum ceruloplasmin for Wilson’s disease in children

Wilson's disease (WD) is a rare autosomal recessive disorder of copper metabolism requiring early diagnosis to prevent severe hepatic and neurological damage, particularly in children, where diagnostic challenges are pronounced. Serum ceruloplasmin (CPN) is a critical biochemical marker, yet its diagnostic accuracy and optimal cutoff value in pediatric populations need further evaluation in specific regional contexts. This study evaluates the diagnostic performance of serum CPN in diagnosing WD among children at Damascus University Children's Hospital and determines an optimal diagnostic cutoff value for this population. A bidirectional cross-sectional study was conducted from January 2019 to December 2022 at Damascus University Children's Hospital, including 80 children diagnosed with WD (case group) and 80 children with hepatic symptoms but without WD (control group), all under 13 years. Serum CPN was measured using immunoturbidimetry. Data on demographics, clinical presentations, Kayser-Fleischer rings, CPN levels, and 24-hour urinary copper were collected. Statistical analyses included t-tests, receiver operating characteristic analysis, and multiple linear regression (Statistical Package for Social Sciences). Ethical approval and informed consent were obtained. Mean age in the WD group was 119.15 ± 30.47 months (57.5% female). Serum CPN was significantly lower in WD (9.8 ± 3.2 mg/dL) versus controls (27.6 ± 10.4 mg/dL, P < .001). Receiver operating characteristic analysis showed high diagnostic accuracy (AUC = 0.967, 95% CI: 0.945-0.988), with an optimal CPN cutoff of 15 mg/dL (sensitivity 93.8%, specificity 85.0%). Regression identified age, female sex, neurological symptoms, Kayser-Fleischer rings, and urinary copper as predictors of lower CPN. Serum CPN is a highly accurate diagnostic marker for pediatric WD, with a 15 mg/dL cutoff optimizing sensitivity and specificity. Interpretation should consider age, sex, and clinical features.