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Pathogenesis and management of W ilson disease
Author(s) -
Harada Masaru
Publication year - 2014
Publication title -
hepatology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.123
H-Index - 75
eISSN - 1872-034X
pISSN - 1386-6346
DOI - 10.1111/hepr.12301
Subject(s) - pathogenesis , wilson's disease , ceruloplasmin , disease , excretion , secretion , copper metabolism , medicine , copper , biology , immunology , chemistry , organic chemistry
Hepatolenticular degeneration, commonly known as W ilson disease, is an autosomal recessive inherited disease of abnormal copper metabolism, characterized by the accumulation of copper in the body due to decreased biliary excretion of copper from hepatocytes. W ilson disease protein, ATP7B , functions in copper excretion into bile and in copper secretion to the bloodstream coupled with ceruloplasmin synthesis. Various kinds of mutations of ATP7B cause W ilson disease. W ilson disease is a rare genetic disease that can be treated pharmacologically. Recognition and prompt diagnosis are very important, because W ilson disease is fatal if left untreated. In this review, I summarize the pathogenesis and management of W ilson disease.