Wilson’s disease: reggarding two cases

Authors

  • Sara Drumond Freitas Serviço de Medicina Interna – Centro Hospitalar do Alto Ave, Guimarães
  • Helena Sarmento Serviço de Medicina Interna – Centro Hospitalar do Alto Ave, Guimarães
  • Glória Alves Serviço de Medicina Interna – Centro Hospitalar do Alto Ave, Guimarães
  • Jorge Cotter Serviço de Medicina Interna – Centro Hospitalar do Alto Ave, Guimarães

Keywords:

Wilson’s disease, diagnosis, treatment

Abstract

Wilson’s disease is a rare disorder, with an autossomal recessive
defect, caused by mutations in the ATP7B gene, a membrane-bound copper-transporting ATPase. Its deficiency results in the
copper accumulation, preferably in the liver and brain.
Patients often present with hepatic (from asymptomatic elevation of liver enzyme to severe hepatic failure) involvement and/or
neuropsychiatric disease. The diagnosis is based upon clinical,
biochemical and histological findings. Because effective treatment
is available, it’s important to make this diagnosis early, and prevent
other manifestations.
The authors report 2 cases of Wilson’s disease with hepatic
involvement, with distinct evolutions.

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References

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Additional Files

Published

2010-03-31

How to Cite

1.
Drumond Freitas S, Sarmento H, Alves G, Cotter J. Wilson’s disease: reggarding two cases. RPMI [Internet]. 2010 Mar. 31 [cited 2024 Nov. 23];17(1):21-5. Available from: https://revista.spmi.pt/index.php/rpmi/article/view/1268

Issue

Section

Case Reports