Wilson’s Disease: First Report of Two Combined Mutational Variants in a Portuguese Patient

Trindade, Miguel and Carvalho, Joana and Barosa, Mariana and Serôdio, João and Oliveira, Ricardo and Furtado, Ana and Favas, Catarina and Delgado Alves, José (2022) Wilson’s Disease: First Report of Two Combined Mutational Variants in a Portuguese Patient. European Journal of Case Reports in Internal Medicine, 9 (1). pp. 1-5. ISSN 2284-2594

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Wilson's disease is a rare autosomal recessive condition. A defect on the copper carrier protein ATP7B prevents the excretion of copper, which then accumulates in several organs. The prognosis of Wilson's disease is favourable if the diagnosis is made early. The Leipzig criteria standardized phenotypic classification and diagnostic criteria, thus simplifying the diagnostic approach. A search for ATP7B mutations is not necessary for diagnostic purposes and studies of genotype–phenotype correlation have not produced any conclusive evidence so far. More information is needed to reliably assess the prognosis for each patient. Here we describe a young patient with a combination of two mutational variants: c.3402del and c.3061-12T>A. To our knowledge, this is the first report of this compound heterozygote genotype.

Item Type: Article
Uncontrolled Keywords: Wilson’s disease, liver failure, copper, genetic testing
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici)
Depositing User: Marina Spanti
Date Deposited: 15 Mar 2022 17:00
Last Modified: 15 Mar 2022 17:00
URI: http://eprints.bice.rm.cnr.it/id/eprint/21681

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