Wilson disease / 한양의대학술지

ABSTRACT

Wilson disease is an autosomal recessive disorder caused by a deficient ATP7B activity. Copper is an important mineral in the body involved in mitochondrial respiration, melanin biosynthesis, dopamin metabolism, iron homeostasis, antioxidant activity and peptide amidation. Liver is an important organ in copper metabolism related to storing and excretion of bile acids. Copper transport in the liver is a complicated process including different transporter proteins. Generally, Wilson disease shows heterogenous clinical features and symptoms may differ between siblings in a family. This finding suggests that other genes or envrionmental factors may play important roles on determination of disease phenotypes. Clinical symptoms of the disease are mainly related to liver dysfunction and neurologic deterioration. Early diagnosis is important in order to prevent serious complications. Lowered serum ceruloplasmin level and increased urine copper excretion are diagnostic criteria in practice. Histopathologic findings are nonspecific for the diagnosis. Treatment of the disease includes administration of chelating agent such as penicillamine and trientine, dietary restriction of copper, and liver transplantation when chelating agents are not successful.