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• W3022647588 abstract "Wilson disease or hepatolenticular degeneration has a prevalence of 1 in 33,000 and presents with cirrhosis, neuropsychiatric symptoms, and, more rarely, multisystem disease due to abnormal copper accumulation. Initial hepatic disease is seen in 40% including children in the second decade, while neurologic (40%), psychiatric (20%), or mixed presentations are more typical of adults in the third or fourth decade. Hepatic symptoms range from chronic hepatitis to acute liver failure; neuropsychiatric symptoms from personality changes to tremors, dystonia, choreoathetosis, or even psychosis. The triad of low ceruloplasmin, high urine copper, and Kayser–Fleischer ring differentiates Wilson disease from other copper accumulation states, the diagnosis confirmed by DNA test showing mutation of ATP7B membrane ATPase that transports copper into the Golgi apparatus. Therapy with penicillamine, trientine, zinc, or liver transplant for refractory disease is very effective and underlines the importance of early diagnosis in affected patients and their at-risk siblings." @default.
• W3022647588 created "2020-05-13" @default.
• W3022647588 creator A5048496567 @default.
• W3022647588 date "2015-01-01" @default.
• W3022647588 modified "2023-09-26" @default.
• W3022647588 title "Wilson Disease" @default.
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• W3022647588 doi "https://doi.org/10.1016/b978-0-12-410529-4.00040-1" @default.
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