Diagnostic Value of a Modified Version of Wilson's Diagnostic Score in Pediatrics.

Abstract

Background: Wilson's disease (WD) is an autosomal-recessive hereditary liver disease affecting copper metabolism.

Objective: To test the diagnostic value of a questionnaire for the diagnosis of WD in pediatrics age group.

Methods: 70 children with biopsy-proven diagnosis of WD and 70 without WD were included in the study. A modified questionnaire with 4 items was used for the diagnosis of WD. The results were then compared to the definite diagnosis made by pathology (the gold standard test).

Results: The median (IQR) modified score in those with WD was 4 (4-5), significantly (p<0.001) higher than that calculated for the comparison group, which was 0 (0-1). The most appropriate cut-off value for the score was 2.5, corresponding to a sensitivity and specificity of 100%, and 98.6%, respectively. Using this cut-off value to classify 20 children with and without WD who underwent liver transplantation resulted in an accuracy of 100%.

Conclusion: The modified scoring system is a sensitive and specific diagnostic tool for the diagnosis of WD in children. This is especially important in regions with limited access to specific laboratory tests for the diagnosis of WD.