Abstract
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.
MeSH terms
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Adenosine Triphosphatases / genetics
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Cation Transport Proteins / genetics
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Copper / metabolism
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Copper-Transporting ATPases
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Female
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Hepatolenticular Degeneration / diagnosis*
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Hepatolenticular Degeneration / enzymology
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Hepatolenticular Degeneration / genetics
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Hepatolenticular Degeneration / therapy*
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Humans
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Liver Failure, Acute / diagnosis
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Mutation
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Pregnancy
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Pregnancy Complications / diagnosis
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Pregnancy Complications / therapy
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Transaminases / metabolism
Substances
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Cation Transport Proteins
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Copper
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Transaminases
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Adenosine Triphosphatases
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Copper-Transporting ATPases