Age and serum creatinine can differentiate ceruloplasmin-normalized patients with Wilson disease

Abstract

Background: Significantly reduced serum ceruloplasmin (Cp) is the most important clue in the diagnosis of Wilson disease (WD) and is well known to clinicians. The false increase of Cp in some WD patients decrease the diagnostic accuracy. The aims of our study was to understand the factors affecting WD patients’ Cp normalization, and identify these WD patients using routine predictors. Methods:We retrospectively screened people with serum Cp ≥140mg/L from 1032 WD patients, and followed their medical records to execute mixed effects model analysis in longitudinal study. Logistic regression analyses were performed in a case-control study between WD cohort and another liver diseases cohort to explore the independent risk factors for Cp normalization and establish a regression model. Results:Eighty-six WD patients and their 352 medical records over more than nine years and another 98 non-WD liver disease patients entered into present study. The Cp normalization were significantly associated with the copper burden and liver function indexes, such as urinary copper, γ-glutamyltransferase, albumin (P< 0.001). Logistic regression analysis showed age and serum creatine (P< 0.001) were independent risk factors associated with WD. Its AUC value of regression model in total cohort was 0.926 (P< 0.001). At a cutoff value of ≥ 0.617 and ≥ -1, the positive and negtive predictive value both are 90.8% for WD, respectively. Conclusion: Increased serum Cp in WD patients is related to excessive copper burden and hepatic injury, common tests can effectively foretell those WD patients from other liver injury patients.