Which disorder has Kayser-Fleischer rings and autosomal recessive inheritance due to copper accumulation?

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Multiple Choice

Which disorder has Kayser-Fleischer rings and autosomal recessive inheritance due to copper accumulation?

Kayser-Fleischer rings, copper deposits in Descemet’s membrane of the cornea, point to Wilson disease. This disorder is autosomal recessive and caused by mutations in the ATP7B gene, which encodes a copper-transporting ATPase. The defective transporter impairs excretion of copper into bile, so copper accumulates first in the liver and then in other organs, including the brain, producing hepatic and neuropsychiatric symptoms. The corneal rings are a classic diagnostic clue, often seen when neurologic signs appear. Because it’s autosomal recessive, two mutated alleles are required, and early detection is important for effective treatment. Management includes copper chelators such as penicillamine or trientine, and zinc to reduce copper absorption. Other conditions listed do not involve copper accumulation or Kayser-Fleischer rings—Lesch-Nyhan is X-linked and involves uric acid metabolism; dopa-responsive dystonia is typically due to GCH1 mutations and responds to L-dopa; blepharospasm is a focal dystonia without copper deposition.

Kayser-Fleischer rings, copper deposits in Descemet’s membrane of the cornea, point to Wilson disease. This disorder is autosomal recessive and caused by mutations in the ATP7B gene, which encodes a copper-transporting ATPase. The defective transporter impairs excretion of copper into bile, so copper accumulates first in the liver and then in other organs, including the brain, producing hepatic and neuropsychiatric symptoms. The corneal rings are a classic diagnostic clue, often seen when neurologic signs appear. Because it’s autosomal recessive, two mutated alleles are required, and early detection is important for effective treatment. Management includes copper chelators such as penicillamine or trientine, and zinc to reduce copper absorption. Other conditions listed do not involve copper accumulation or Kayser-Fleischer rings—Lesch-Nyhan is X-linked and involves uric acid metabolism; dopa-responsive dystonia is typically due to GCH1 mutations and responds to L-dopa; blepharospasm is a focal dystonia without copper deposition.

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