Wilson Disease

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NEET PG PYQ Topic: Wilson Disease

Wilson Disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, leading to impaired copper transport and metabolism.
Accumulation of copper primarily in the liver, brain, and other tissues results from defective excretion of copper into bile.
Early signs often include hepatic dysfunction, such as elevated liver enzymes, hepatic steatosis, or chronic liver disease.
Neurological manifestations include tremors, dysarthria, dystonia, and psychiatric symptoms, due to copper accumulation in the basal ganglia.
A characteristic feature is Kayser-Fleischer rings, copper deposits in the cornea visible on slit-lamp examination.
Psychiatric symptoms can be diverse, ranging from depression and anxiety to psychosis and cognitive impairment.
Diagnosis is based on low serum ceruloplasmin levels, elevated urinary copper excretion, and hepatic copper content on liver biopsy.
Penicillamine and trientine are chelating agents used to treat Wilson disease by promoting urinary excretion of copper.
Zinc acetate or zinc sulfate is used as maintenance therapy to prevent copper absorption from the intestine.
Untreated, Wilson disease can lead to severe liver disease, neurological impairment, and is potentially fatal.

Wilson Disease

NEET PG PYQ Navigator

NEET PG PYQ Topic: Wilson Disease

Wilson Disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, leading to impaired copper transport and metabolism.

Accumulation of copper primarily in the liver, brain, and other tissues results from defective excretion of copper into bile.

Early signs often include hepatic dysfunction, such as elevated liver enzymes, hepatic steatosis, or chronic liver disease.

Neurological manifestations include tremors, dysarthria, dystonia, and psychiatric symptoms, due to copper accumulation in the basal ganglia.

A characteristic feature is Kayser-Fleischer rings, copper deposits in the cornea visible on slit-lamp examination.

Psychiatric symptoms can be diverse, ranging from depression and anxiety to psychosis and cognitive impairment.

Diagnosis is based on low serum ceruloplasmin levels, elevated urinary copper excretion, and hepatic copper content on liver biopsy.

Penicillamine and trientine are chelating agents used to treat Wilson disease by promoting urinary excretion of copper.

Zinc acetate or zinc sulfate is used as maintenance therapy to prevent copper absorption from the intestine.

Untreated, Wilson disease can lead to severe liver disease, neurological impairment, and is potentially fatal.

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