Atomic Absorption Spectrometry in Wilson’s Disease and Its Comparison with Other Laboratory Tests and Paraclinical Findings|
Mahjoub, Fatemeh; Fereiduni, Rana; Jahanzad, Isa; Farahmand, Fatemeh; Monajemzadeh, Maryam & Najafi, Mehri
Objective: Wilson's disease (WD) is an autosomal recessive disease with genetic abnormality on chromosome
13 causing defect in copper metabolism and increased copper concentration in liver, central nervous system
and other organs, which causes different clinical manifestations. The aim of this study was to determine the
sensitivity of different clinical and paraclinical tests for diagnosis of Wilson’s disease.
Methods: Paraffin blocks of liver biopsy from 41 children suspicious of WD were collected. Hepatic copper
concentrations were examined with atomic absorption spectrophotometry (Australian GBC, model: PAL
3000). Fifteen specimens had hepatic copper concentration (dry weight) more than 250μg/g. Clinical and
laboratory data and histologic slides of liver biopsies of these 15 children were reviewed retrospectively.
Liver tissue was examined for staging and grading of hepatic involvement and also stained with rubeonic acid
method for copper.
Findings: Patients were 5-15 years old (mean age=9.3 years, standard deviation=2.6) with slight male
predominance (9/15=60%). Five (33%) patients were 10 years old. Three (20%) of them were referred for
icterus, 8 (54%) because of positive family history, 2 (13%) due to abdominal pain and 2 (13%) because of
hepatosplenomegaly and ascites. Serum AST and ALT levels were elevated at the time of presentation in all
patients. In liver biopsy, histological grade and stage was 0-8 and 0-6 respectively, 2 (13%) had cirrhosis, 1
(7%) had normal biopsy and 12 (80%) showed chronic hepatitis. Hepatic copper concentrations were
between 250 and 1595 μg/g dry weight. The sensitivity of various tests were 85% for serum copper, 83% for
serum ceruloplasmin, 53% for urinary copper excretion, 44% for presence of KF ring and 40% for rubeonic
acid staining on liver biopsies.
Conclusion: None of the tests stated in the article were highly sensitive for diagnosis of WD, so we suggest
that diagnosis should be based on combination of family history, physical examination and different tests.
Wilson’s Disease; Atomic Absorption Spectrometry; Urinary Copper; Liver Biopsy