Lege Artis Medicinae

[The role of the family physician in the preparation for liver transplantation in Wilson’s disease]

FARKAS Anett, KALABAY László, MÁTHÉ Zoltán, MÁRKUS Bernadett, SZALAY Ferenc, VÖRÖS Krisztián, TORZSA Péter

DECEMBER 18, 2016

Lege Artis Medicinae - 2016;26(11-12)

[Wilson’s disease is an autosomal recessive disease with toxic copper accumulation caused by the mutation of the ATP7B gene in chromosome 13. The estimated prevalence of the disease is 2-3 / 100000. Early diagnosis is important because the treatment may stop the progression and could result regression or it can prevent the clinical manifestation of the disease. In our case study we describe how difficult could be to diagnose the disease, the role of the family physician in the preparation for liver transplantation and in the follow-up care. This case is an example demonstrating that Wilson's disease is often diagnosed only years after the appearance of the first symptom. We review the most important literature data on Wilson’s disease. ]

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