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Wilson disease: Difference between revisions
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(Created page with "Wilson disease is an autosomal recessive disorder of copper metabolism characterised by the toxic accumulation of copper in the liver and central nervous system that may present with hepatic, neurologic and/or psychiatric symptoms. Symptoms can begin any time in the age of 5 – 35 years. == Pathomechanism == A mutation in the ATP7B gene, a copper transporter causes decreased copper excretion and decreased incorporation of copper into apoceruloplasmin, thereby causing...") |
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Wilson disease is an autosomal recessive disorder of copper metabolism characterised by the toxic accumulation of copper in the liver and central nervous system that may present with hepatic, neurologic and/or psychiatric symptoms. | '''Wilson disease''' is an autosomal recessive disorder of copper metabolism characterised by the toxic accumulation of copper in the liver and central nervous system that may present with hepatic, neurologic and/or psychiatric symptoms. | ||
Symptoms can begin any time in the age of 5 – 35 years. | Symptoms can begin any time in the age of 5 – 35 years. | ||
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* Hepatic symptoms | * Hepatic symptoms | ||
** [[Jaundice]] | ** [[Jaundice]] | ||
** Ascites | ** [[Ascites]] | ||
** Acute liver failure | ** [[Acute liver failure]] | ||
** Chronic hepatitis | ** Chronic [[hepatitis]] | ||
* Psychiatric symptoms | * Psychiatric symptoms | ||
** [[Dementia]] | ** [[Dementia]] | ||
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** Personality change | ** Personality change | ||
* Neurological symptoms | * Neurological symptoms | ||
** Parkinsonism | ** [[Parkinsonism]] | ||
** Dystonia | ** [[Dystonia]] | ||
** Dysarthria | ** [[Dysarthria]] | ||
** Flapping tremor | ** Flapping tremor | ||
** Chorea | ** [[Chorea]] | ||
Green-brown rings on the periphery of the iris, called Kayser-Fleischer rings, are pathognomic for the disease and occurs in all cases. | Green-brown rings on the periphery of the iris, called Kayser-Fleischer rings, are pathognomic for the disease and occurs in all cases. | ||
== Diagnosis and evaluation == | == Diagnosis and evaluation == | ||
Diagnosis is based on elevated serum copper, decreased serum [[ceruloplasmin]], and increased urinary copper excretion. MRI-SWI shows deposition of metal in the brainstem. | Diagnosis is based on elevated serum copper, decreased serum [[ceruloplasmin]], and increased urinary copper excretion. [[MRI]]-SWI shows deposition of metal in the brainstem. | ||
Genetic testing can confirm the diagnosis. | Genetic testing can confirm the diagnosis. | ||