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English Wikipedia
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Wilson disease El-Youssef MMayo Clin Proc 2003[Sep]; 78 (9): 1126-36Wilson disease is a rare disorder of copper metabolism that results in accumulation of copper in the liver and subsequently in other organs, mainly the central nervous system and the kidneys. Advances in the diagnosis and treatment of Wilson disease are discussed, with the emphasis that this is a disease of children, adolescents, and young adults. The myriad manifestations of Wilson disease make its diagnosis dependent on a high index of suspicion, and determination of its genetic background is helping to elucidate the genotype-phenotype correlation and the diversity of presentations. Treatment of Wilson disease has progressed from chelation therapy using D-penicillamine and trientine to the more recent use of zinc and finally to the establishment of liver transplantation as an urgent but excellent modality for fulminant presentation. The evolution of Wilson disease from a uniformly fatal disease to an eminently treatable disease during the past century is an example of the remarkable advances of modern medicine.|Adenosine Triphosphatases/antagonists & inhibitors[MESH]|Chelating Agents/therapeutic use[MESH]|Copper/metabolism[MESH]|Hepatolenticular Degeneration/*diagnosis/physiopathology/*therapy[MESH]|Humans[MESH]|Liver Transplantation[MESH]|Molybdenum/therapeutic use[MESH]|Penicillamine/therapeutic use[MESH]|Trientine/therapeutic use[MESH]|Zinc/therapeutic use[MESH] |
