Metal Storage Disorders: Wilson Disease and Hemochromatosis

• Autores: Pushpjeet Kanwar, Kris V. Kowdley
• Localización: Medical clinics of North America, ISSN 0025-7125, Vol. 98, Nº. 1, 2014 (Ejemplar dedicado a: Diagnosis and management of chronic liver diseases), págs. 87-102
• Idioma: inglés
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• Resumen

  • 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