Wilson's Disease Presenting as Acute Fulminant Hepatic Failure

O'Donnell, J.; Watson, Iona; Fell, Gordon S.; Allison, M. E. M.; Russell, Robin; Mills, Peter R.

doi:10.1177/003693309003500410

Cited by 6 publications

(2 citation statements)

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“…Wilson's disease patients show characteristic abnormal copper accumulation in the tissues, particularly those of the liver and brain, and a decrease in serum copper and ceruloplasmin levels (8-10). Fulminant liver disorder is also observed in some Wilson's disease patients (11)(12)(13). The genetic basis of the human disease is known to be a single autosomal recessive mutation (9).…”

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d-penicillamine prevents the development of hepatitis in long-evans cinnamon rats with abnormal copper metabolism

et al. 1992

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The Long-Evans Cinnamon rat is a mutant strain that contracts hereditary hepatitis and, eventually, spontaneous hepatocellular carcinoma. Because we found a corresponding gross copper accumulation in the liver of the rats, we examined whether the development of hepatitis in our rat system could be prevented by administration of D-penicillamine. D-Penicillamine is a copper-chelating agent and one of the drugs effective for human Wilson's disease, in which abnormal copper metabolism is also observed. The results show that D-penicillamine treatment inhibited the elevation of serum transaminases, suppressed abnormal histological changes in the liver and completely prevented the onset of hepatitis in the Long-Evans Cinnamon rats. We further found that the copper concentration in the liver and serum copper and ceruloplasmin levels were decreased, whereas the urinary copper level was increased in the D-penicillamine-treated Long-Evans Cinnamon rats. These findings demonstrate that the pathogenesis of hereditary hepatitis in Long-Evans Cinnamon rats is due to abnormal copper accumulation in the liver.

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d-penicillamine prevents the development of hepatitis in long-evans cinnamon rats with abnormal copper metabolism

et al. 1992

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“…Family 2 are Caucasians from Southern Scotland. The symptomatic patient (111.2, Figure 3) had an acute and fatal hepatic presentation (O'Donnell et al, 1990).…”

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DNA‐based presymptomatic diagnosis of Wilson disease

Gaffney

Walker

O'Donnell

et al. 1991

J of Inher Metab Disea

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Investigation using DNA markers in a family with Wilson disease revealed that an apparently normal child of 10 years of age with non-diagnostic copper biochemistry had the disease. The procedure used linked restriction fragment length polymorphic markers. Demonstration of increased liver copper concentration from a liver biopsy confirmed the diagnosis and the child was started on chelation therapy. Two other asymptomatic siblings were shown, using the same techniques, not to have the disease. Similar analysis was carried out on another family with just one index case.

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Vitamins and Trace Elements

Shenkin¹,

Roberts²

2012

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics

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Wilson's Disease Presenting as Acute Fulminant Hepatic Failure

Cited by 6 publications

References 5 publications

d-penicillamine prevents the development of hepatitis in long-evans cinnamon rats with abnormal copper metabolism

d-penicillamine prevents the development of hepatitis in long-evans cinnamon rats with abnormal copper metabolism

DNA‐based presymptomatic diagnosis of Wilson disease

Vitamins and Trace Elements

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