Notes in 06_Wilson's Disease

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Published	02/10/2024	{{c1::Wilson’s Disease}} is {{c2::an autosomal recessive genetic condition characterized by abnormal copper deposition in organs due to a defective AT…
Published	02/10/2024	Genetics of {{c2::Wilson’s Disease}} Inheritance: {{c1::autosomal recessive}} Mutation: {{c1::ATP7B gene mutation on chromosome 13}} Protein affected:…
Published	02/10/2024	Presentation of {{c2::Wilson’s Disease}}Remembered as {{c1::SCOPPER AAA}} {{c1::Symptom onset between 6-45 (commonly teenage years)}} {{c1::Cirrhosis}…
Published	02/10/2024	In 50% of Wilson's Disease cases, a {{c1::slit-lamp examination}} shows {{c2::kayser-fleischer rings}} on the cornea
Published	02/10/2024	Management of {{c2::Wilson’s Disease}} {{c1::Avoid foods high in copper content}} {{c1::Lifelong penicillamine +/- zinc acetate}}
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