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- W2891568103 abstract "Abstract Wilson disease (WD) is an autosomal recessive genetic disorder that impairs production of ceruloplasmin and normal biliary excretion of excess dietary copper, resulting in toxic accumulations in the liver, brain, and other tissues and organs. It occurs globally in all races and ethnicities and may present clinically at any age. Over 600 pathogenic mutations have been detected in the ATP7B gene on chromosome 13 and most patients are compound heterozygotes. Clinical presentations vary widely, and clinicians should include WD in the differential diagnosis of acute and chronic liver diseases, neuropsychiatric diseases, and hemolysis. Diagnostic tests include liver enzymes, serum ceruloplasmin, neurologic exam, and corneal examination for Kayser–Fleischer rings. However, additional testing may be required, including 24-hour urinary copper excretion, hepatic copper concentration, or sequencing of the ATP7B gene. All first-degree relatives should be screened to detect presymptomatic WD. Toxic stores of copper can be removed with chelation therapy or with zinc to inhibit intestinal copper absorption. Liver transplantation is mandatory for patients with acute liver failure, severely decompensated cirrhosis, or hepatocellular carcinoma. It is rarely indicated for neurologic disease. The prognosis of medically treated WD patients with early stages of disease and their presymptomatic relatives is excellent." @default.
- W2891568103 created "2018-09-27" @default.
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- W2891568103 date "2019-01-01" @default.
- W2891568103 modified "2023-09-23" @default.
- W2891568103 title "Wilson Disease in Adults" @default.
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- W2891568103 doi "https://doi.org/10.1016/b978-0-12-810532-0.00016-1" @default.
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