Hanyang Med Rev.  2005 Aug;25(3):4-11.

Wilson disease

• Lee JS

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.

Keyword

Copper; ATP7B; Mutations; Chelating agent

MeSH Terms

Bile Acids and Salts
Ceruloplasmin
Chelating Agents
Copper
Diagnosis
Early Diagnosis
Hepatolenticular Degeneration*
Homeostasis
Humans
Iron
Liver
Liver Diseases
Liver Transplantation
Melanins
Metabolism
Penicillamine
Phenotype
Respiration
Siblings
Trientine
Bile Acids and Salts
Ceruloplasmin
Chelating Agents
Copper
Iron
Melanins
Penicillamine
Trientine