title: Metal storage disorders: Wilson disease and hemochromatosis.
abstract: Hereditary hemochromatosis and Wilson disease are autosomal recessive storage disorders of iron and copper overload, respectively. These metals are involved in multiple redox reactions, and their abnormal accumulation can cause significant injury in the liver and other organs. Over the last few decades clinicians have developed a much better understanding of these metals and their mechanism of action. Moreover, sophisticated molecular genetic testing techniques that make diagnostic testing less invasive are now available. This article updates and discusses the pathogenesis, diagnosis, and management of these metal storage disorders.
authors.affiliation: Liver Center of Excellence, Department of Gastroenterology, Digestive Disease Institute, Virginia Mason Medical Center, 1100 9th Avenue, Mailstop C3-GAS, Seattle, WA 98101, USA.
authors.forename: Pushpjeet
authors.initials: P
authors.lastname: Kanwar
authors.forename: Kris V
authors.initials: KV
authors.lastname: Kowdley
mesh_terms: D001706:Biopsy; D002614:Chelating Agents / Q000627:therapeutic use*; D018450:Disease Progression; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006432:Hemochromatosis / Q000097:blood / Q000235:genetics / Q000473:pathology / Q000628:therapy; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000235:genetics / Q000473:pathology / Q000628:therapy; D006801:Humans; D008099:Liver / Q000473:pathology; D017093:Liver Failure / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D016031:Liver Transplantation; D010396:Penicillamine / Q000627:therapeutic use; D018962:Phlebotomy / Q000379:methods*; D011379:Prognosis; D014266:Trientine / Q000627:therapeutic use
chemical_list: D002614:Chelating Agents; D010396:Penicillamine; D014266:Trientine
keywords: Cirrhosis; Copper; Ferritin; Hemochromatosis; Hepcidin; Wilson disease