Wilson's disease
Ławniczak, M.łg.; Raszeja-Wyszomirska, J.; Starzyńska, T.
Polski Merkuriusz Lekarski Organ Polskiego Towarzystwa Lekarskiego 29(170): 125-127
2010
ISSN/ISBN: 1426-9686 PMID: 20842827 Document Number: 644421
Wilson's disease is caused by a P-type ATP-ase gene mutations with reduced biliary copper excretion and accumulation copper in the liver and other tissues. Clinical symptoms can be heterogeneous but in many cases on the first stage the only abnormalities is elevation of aminotransferase activity. In some cases the first fatal symptom of disease is acute liver failure, therefore early diagnosis and treatment is essential. We present an actual recommendations for diagnosis and treatment of patients with Wilson's disease.