Wilson’s Disease: First Report of Two Combined Mutational Variants in a Portuguese Patient
  • Miguel Trindade
    Department of Internal Medicine IV, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • Joana Carvalho
    Department of Internal Medicine IV, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • Mariana Barosa
    Department of Internal Medicine IV, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • João Serôdio
    Department of Internal Medicine IV, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • Ricardo Oliveira
    Department of Internal Medicine IV, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • Ana Furtado
    Department of Internal Medicine IV, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • Catarina Favas
    Department of Internal Medicine IV, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal
  • José Delgado Alves
    Department of Internal Medicine IV, Hospital Professor Doutor Fernando Fonseca, Amadora, Portugal

Keywords

Wilson’s disease, liver failure, copper, genetic testing

Abstract

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.

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Published: 2022-01-25
Issue: 2022: Vol 9 No 1 (view)


How to cite:
1.
Trindade M, Carvalho J, Barosa M, Serôdio J, Oliveira R, Furtado A, Favas C, Delgado Alves J. Wilson’s Disease: First Report of Two Combined Mutational Variants in a Portuguese Patient. EJCRIM 2022;9 doi:10.12890/2022_003141.

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