Wilsons Disease medical

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Homepage: EMNote.org ■ • 🚩Membership: https://tinyurl.com/joinemnote • 🚩ACLS Lecture: https://tinyurl.com/emnoteacls • • Wilson's disease is a rare genetic disorder of copper metabolism, leading to excessive copper accumulation in the liver, brain, and other vital organs. It is caused by mutations in the ATP7B gene, impairing copper transport and excretion. Key clinical features include hepatic manifestations (such as hepatitis, cirrhosis), neurological symptoms (tremors, dystonia, dysarthria), psychiatric disturbances, and Kayser-Fleischer rings in the cornea. Diagnosis is confirmed through low serum ceruloplasmin, high urinary copper excretion, liver biopsy, and genetic testing. Treatment involves copper chelators like penicillamine or trientine, and zinc salts to block copper absorption. Early diagnosis and treatment are crucial to prevent irreversible organ damage.

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