Assessment of Diagnostic Value of Serum Ceruloplasmin for Wilson’s Disease in Children

Background: Serum ceruloplasmin is one of the major diagnostic parameters for Wilson’s disease (WD). Age and gender difference of serum ceruloplasmin remain controversy. This study aims to assess diagnostic value of serum ceruloplasmin for WD in children. Methods: Serum ceruloplasmin were measured in 317 WD patients, 21 heterozygotes, 372 healthy control children and 154 non-WD patients. Receiver operating characteristic (ROC) curve was used to determine the diagnostic accuracy of serum ceruloplasmin for WD in children. Results: Among healthy controls, serum ceruloplasmin was mildly low in the infants younger than 6 months, and then presented around 26–33 mg/dl from 6 months to 15 years. Few (8.1%) of healthy children had serum ceruloplasmin  20 mg/dL. Serum ceruloplasmin had gender difference, higher in healthy boys than healthy girls, and also higher in asymptomatic WD boys than asymptomatic WD girls (p < 0.01, p < 0.05). Serum ceruloplasmin presented genotypic difference. WD patients with R778L homozygotes exhibited lower level of serum ceruloplasmin than WD patients without R778L (p < 0.05). The ROC curve revealed that serum ceruloplasmin, at a cutoff value of 16.8 mg/dL, had the highest AUC value (0.990) with a sensitivity of 95.9% and a specificity of 93.6%. Conclusions: Serum ceruloplasmin is a reliable diagnostic criteria for WD in children. Gender and genotypic difference of serum ceruloplasmin should be considered. The cutoff value of serum ceruloplasmin < 16.8 mg/dL may provide the highest accuracy for diagnosis of WD in children.