[Hepatic Wilson's disease: clinical presentation and prognosis. Indications for liver transplantation].
Wilson's disease is a hereditary disorder of biliary copper excretion. Most often the disease presents with hepatic and neurological involvement. In the hepatic forms, hypocerulo-plasminemia, the determination of eye copper and the dosage of copper in serum, urine and liver tissue are all leads to diagnosis. The presentation and the biochemistry may direct the diagnosis of the acute forms. Treatment differs according to the clinical patterns. Early diagnosis in the asymptomatic patient leads to chelating therapy to prevent copper overload. Chronic disease may benefit from chelation and liver transplant. Transplantation is the cure for fulminant forms. We report three young women with Wilson's disease; one had a fulminant form and was transplanted and the other two responded to chelation therapy. Family screening allowed the identification of an asymptomatic sibling.
Divisione di Gastroenterologia, Ospedale Molinette, Torino.
W
W
Debernardi-Venon
F A
FA
Balzola
M
M
Lagget
A
A
Marzano
D000293:Adolescent; D002614:Chelating Agents / Q000008:administration & dosage / Q000627:therapeutic use; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D016031:Liver Transplantation; D010375:Pedigree; D011379:Prognosis; D013997:Time Factors
D002614:Chelating Agents
Malattia di Wilson epatica: presentazione clinica e prognosi. Indicazioni al trapianto di fegato.