Chapter 17 - Wilson's disease

Abstract

Publisher Summary This chapter discusses the epidemiology, pathogenesis, pathology, clinical features, diagnosis, and treatment of Wilson's disease. Wilson's disease is an inborn error of metabolism characterized by defective biliary copper excretion and the effects of accumulation of toxic amounts of copper in liver, brain, kidney, and cornea. The disorder is inherited in an autosomal recessive fashion. The healthy liver plays a major role in copper homeostasis. Ingested copper on absorption in the small intestine may be retained in enterocytes, bound to metallothionein. Some passes into the portal system and is carried to the liver bound to albumin or to a copper-binding protein called transcuprein. In the liver, it is incorporated into essential metalloenzymes or ceruloplasmin, stored or excreted in bile in a form which is not reabsorbable. The biliary excretion matches absorption. Two major abnormalities in copper metabolism occur in Wilson's disease—diminished biliary excretion of copper and impaired incorporation of copper into ceruloplasmin. Untreated Wilson's disease is invariably fatal. The two main therapies are oral chelating agents or liver transplantation.