Wilson's disease

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Wilson's disease

[′wil·sənz di‚zēz]
(medicine)
A hereditary disease of ceruloplasmin formation transmitted as an autosomal recessive and characterized by decreased serum ceruloplasmin and copper values, and increased excretion of copper in the urine. Also known as hepatolenticular degeneration.
References in periodicals archive ?
One cause of normal serum ceruloplasmin in patients with Wilson disease is the presence of acute hepatitis, which can increase serum ceruloplasmin values to the normal range.
MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation.
Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.
In a study of four pregnancies where both parents were Wilson disease carriers, the team demonstrated that cSMART can diagnose Wilson disease if the sequences of the parents' mutant ATP7B variants are known.
Kayser-Fleischer ring and associated cataract in Wilson disease.
The drug has previously been shown to be effective in treating Wilson disease, a disease caused by an overload of copper, and certain metastatic cancers.
Diagnostic value of quantitative hepatic copper determination in patients with Wilson disease.
Psychotic symptoms can be induced by a large variety of conditions, including drug abuse, alcohol, medication, toxic poisoning, and vitamin deficiency, as well as diseases, such as brain tumours, Wilson disease, thyroid dysfunctions, syphilis, lupus, AIDS, Creutzfeldt-Jakob disease (CJD), multiple sclerosis and epilepsy.
Psychological presentations without hepatic involvement in Wilson disease.
Additionally, other symptoms that can affect patients with Wilson disease, and may occur before or after a diagnosis has been made include joint disorders, symptoms of arthritis, and skeletal problems such as osteoporosis.
Chronic liver injury from diverse causes such as viruses, parasites, alcohol, hereditary metal overload, for example, Wilson disease, and xenobiotics may give rise to a constellation of abnormalities such as fatty change, apoptosis, necrosis, cholestasis, inflammation, and fibrosis as well as nodular regeneration and cirrhosis.