Wilson’s disease: reggarding two cases
Keywords:
Wilson’s disease, diagnosis, treatmentAbstract
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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