Diagnostic Value of a Modified Version of Wilson’s Diagnostic Score in Pediatrics

S Sajedianfard, M Ataollahi, S M Dehghani

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.


Keywords


Hepatolenticular degeneration; Wilson’s disease; Ceruloplasmin; Liver transplantation

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 pISSN: 2008-6482
 eISSN: 2008-6490

 

Creative Commons LicenseThis work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License