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

S Sajedianfard1, M Ataollahi2, S M Dehghani2,3

  • 1Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.

International Journal of Organ Transplantation Medicine
|August 25, 2020
PubMed

Insights

A new questionnaire effectively diagnoses Wilson's disease (WD) in children. This tool shows high sensitivity and specificity, aiding diagnosis, especially where specialized lab tests are unavailable.

Area of Science:

  • Pediatric Hepatology
  • Genetic Metabolic Disorders
  • Diagnostic Tool Development

Background:

  • Wilson's disease (WD) is an inherited disorder impacting copper metabolism.
  • Accurate diagnosis in children is crucial for timely intervention.

Purpose of the Study:

  • To evaluate a novel questionnaire for diagnosing Wilson's disease in pediatric patients.
  • To assess the diagnostic accuracy of the modified questionnaire against established methods.

Main Methods:

  • A 4-item modified questionnaire was administered to 70 children with confirmed WD and 70 controls.
  • Diagnostic performance was compared to liver biopsy (gold standard).
  • Sensitivity, specificity, and accuracy were calculated at a cut-off score of 2.5.

Main Results:

  • Children with WD had significantly higher median scores (4) than controls (0).
  • The questionnaire achieved 100% sensitivity and 98.6% specificity at a score of 2.5.
  • 100% accuracy was observed when classifying patients who had undergone liver transplantation.

Conclusions:

  • The modified scoring system demonstrates high sensitivity and specificity for diagnosing pediatric Wilson's disease.
  • This tool offers a valuable, accessible diagnostic aid, particularly in resource-limited settings.
  • The questionnaire facilitates early identification and management of Wilson's disease in children.

Keywords:
CeruloplasminHepatolenticular degenerationLiver transplantationWilson’s disease

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