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• W1988934234 abstract "To evaluate the diagnostic features, clinical course, and overall long-term survival of patients with Wilson disease.Retrospective cohort study with a mean follow-up period of 14.2 years.A university medical center and a community hospital.Fifty-one consecutive patients with Wilson disease were evaluated between 1957 and 1989.Patients were treated with D-penicillamine (600 to 1800 mg/d). Two patients with end-stage liver disease had liver transplantation.Initial symptoms occurred at a mean age of 15.5 years. At diagnosis, the most common neurologic signs were dysarthria, tremor, writing difficulties, and ataxia followed by hypersalivation and headache. Somatic symptoms included abdominal pain, hepatomegaly, splenomegaly, cirrhosis of the liver, and thrombocytopenia. The mean serum concentrations of ceruloplasmin and copper were 44 mg/L and 4.7 mumol/L, respectively. The mean basal urinary copper excretion was 5.5 mumol/d, and the mean hepatic copper concentration was 19.6 mumol/g dry weight. Free serum copper concentration (mean, 2.7 mumol/L) was a reliable indicator of disease and was useful in assessing the effectiveness of therapy (values less than 1.6 mumol/L). Treatment with D-penicillamine improved most of the hematologic and neurologic abnormalities but had little effect on hepatomegaly and splenomegaly and did not reverse cirrhosis. Two patients died of fulminant hepatic failure during the observation period, whereas two others with end-stage liver disease had successful liver transplantation and remain asymptomatic. Long-term survival of patients with Wilson disease was similar to that of age- and sex-matched controls.Our results suggest that long-term treatment of patients with Wilson disease with D-penicillamine can relieve symptoms and improve prognosis." @default.
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• W1988934234 date "1991-11-01" @default.
• W1988934234 modified "2023-09-29" @default.
• W1988934234 title "Wilson Disease: Clinical Presentation, Treatment, and Survival" @default.
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• W1988934234 doi "https://doi.org/10.7326/0003-4819-115-9-720" @default.
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