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Evaluation of diagnostic parameters of Wilson's disease in childhood
Aysel Yüce1, Nurten Koçak, Hülya Demir
1Department of Pediatrics, Gastroenterology Unit, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey. ayuce@hacettepe.edu.tr
Insights
Diagnosing Wilson's disease (WD) in children is crucial. 24-hour urinary copper excretion is the most sensitive diagnostic test, especially when liver biopsy is not feasible.
Area of Science:
- Pediatric Hepatology
- Genetic Metabolic Disorders
- Diagnostic Accuracy
Background:
- Wilson's disease (WD) is an inherited condition causing copper buildup.
- Diagnosis relies on clinical signs and laboratory tests.
- Variability in presentation necessitates sensitive diagnostic tools.
Purpose of the Study:
- To assess the diagnostic sensitivity of various tests for Wilson's disease in pediatric patients.
- To identify the most reliable biomarker for WD diagnosis in children with elevated liver copper.
Main Methods:
- Retrospective analysis of 33 children (ages 6-15) with confirmed Wilson's disease.
- Evaluation of Kayser-Fleischer rings, urinary copper, serum ceruloplasmin, and liver orcein staining.
- Correlation of test results with clinical presentation (hepatic vs. neurological).
Main Results:
- All patients had hepatic involvement; 4 also had neurological symptoms.
- Urinary copper excretion showed 100% sensitivity.
- Orcein staining (88%), ceruloplasmin (82%), and Kayser-Fleischer rings (63%) had lower sensitivities.
- Kayser-Fleischer rings were more prevalent in neurologically affected patients.
Conclusions:
- 24-hour urinary copper excretion is the most sensitive diagnostic marker for Wilson's disease in children.
- This test is particularly valuable when liver biopsy is contraindicated.
- Accurate diagnosis aids in timely management and prevention of complications.
Background:
Wilson's disease (WD) is an autosomal recessive disorder with variable clinical presentation. Its diagnosis depends on a combination of clinical and laboratory findings. We evaluated the sensitivity of various diagnostic tests in children with WD and high liver copper concentrations.
Methods:
Thirty-three children (6-15 years old, 19 male) with confirmed WD (hepatic copper >250 mcirog/g dry weight) were evaluated retrospectively. Eyes were examined with biomicroscope for Kayser-Fleischer rings and urinary copper content was determined in 30 patients. Serum ceruloplasmin levels were measured and liver tissue samples were stained with orcein in all.
Results:
All patients presented with hepatic disease. Four patients also had neurological involvement. Hepatic copper concentration was between 250 and 1200 microg/g. Eighteen patients had liver cirrhosis, 9 chronic hepatitis, and 6 had massive hepatic necrosis on liver biopsy or necropsy. The sensitivity of various tests evaluated was: 100% (30/30) for urinary copper excretion, 88% (29/33) for orcein staining on liver tissues, 82% (27/33) for ceruloplasmin levels, and 63% (19/30) for presence of Kayser-Fleischer ring. Kayser-Fleischer ring was present in all patients with neurological manifestations and in 58% of patients with only hepatic presentation.
Conclusions:
24-hour urinary copper excretion seems to be the most sensitive test for diagnosis of WD, particularly when liver biopsy cannot be performed due to coagulation abnormalities.