Pediatrics

Biography

Biography: Sarvin Sajedianfard

Abstract

Background and objectives: Wilson’s disease (WD) is a genetic disorder of liver affecting copper metabolism and is one of the common causes of liver failure. In this study we aimed to test the diagnostic value of a questionnaire for the diagnosis of WD in pediatrics age group.

Materials and Methods: Two groups of 70 children with the diagnosis of WD and 70 without WD were included in the study. The gold standard test for the diagnosis of WD was liver biopsy. Then a modified questionnaire with 4 items was used and the results were compared to the definite diagnosis made by pathology.

Results: The median (IQR) modified score in those with WD was significantly higher than that for the comparison group. The sensitivity and specificity were 100% and 98.6%, respectively, according to an NPV of 100%.

Conclusion: As WD is one of the causes of liver transplant, this modifies scoring system helps to diagnosis of WD in children especially in regions with limited access to specific laboratory tests for the diagnosis of WD.