Review Article Wilson's Disease: a review
نویسندگان
چکیده
Introduction and Genetics Wilson's disease (WD; Hepatolenticular degeneration) is an autosomal-recessive disorder of copper metabolism due to absence or dysfunction of a copper-transporting, Ptype ATPase which is essential for the transport of copper into bile. Affected patients accumulate excessive copper within the liver as well as the brain and other tissues. This is mainly a disease of children, adolescents, and young adults, and is characterized by hepatobiliary, neurologic, psychiatric and ophthalmologic (Kayser-Fleischer rings) manifestations. If diagnosed early and properly managed, WD is one of the more easily treated inborn errors of metabolism. In 1912, Samuel Alexander Kinnier Wilson (British Neurologist, 1878-1937), while serving as a Senior Resident at the National Hospital for Nervous Diseases, London, published his experience of "Progressive Lenticular Degeneration: A Familial Nervous Disease Associated with Cirrhosis of the Liver", as part of his dissertation for the MD degree.1 He speculated that the brain disease characterized by extra pyramidal features was caused by the liver disease. The discovery of the gene for Menkes' disease and its product ATP7A, a cation-transporting P-type adenosine triphosphatase (ATPase) involved in copper transport in many tissues, 2 was a breakthrough in the understanding of the molecular basis of the defect of copper metabolism in Wilson's disease. Just after this discovery, Wilson's disease was identified as the result of a defect in a gene, designated ATP7B that encodes a copper transporting P-type ATPase.3 WD occurs worldwide with an average prevalence of ~ 30 affected individuals per million populations.4 Table I gives the description of milestone of WD.
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