Background: Wilson's disease diagnosis is still a challenge for clinicians.
Aim: To underline the importance of genetic testing in carrier detection and diagnosis of atypical Wilson's disease cases.
Methods: Two families with Wilson's disease in two consecutive generations were analysed with clinical, biochemical and genetic testing.
Results: In one family with triplet siblings, two of whom monozygotic, molecular screening of ATP7B, the gene responsible for Wilson's disease phenotype, allowed detection of 3 disease alleles, the discrimination between carrier and disease state and the postmortem diagnosis of Wilson's disease in the siblings' father. In the second family, molecular analysis detected 3 disease alleles and confirmed the diagnosis of Wilson's disease in two asymptomatic monozygotic twins.
Conclusion: These results demonstrate that mutational analysis is determinant for carrier identification and diagnosis of atypical Wilson's disease patients.
Copyright © 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.