Which disorder presents with Kayser-Fleischer rings and copper accumulation, with autosomal recessive inheritance?

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Multiple Choice

Which disorder presents with Kayser-Fleischer rings and copper accumulation, with autosomal recessive inheritance?

Copper metabolism disorder with corneal copper deposition is Wilson disease, an autosomal recessive condition caused by mutations in ATP7B that impair copper excretion into bile. This leads to progressive copper buildup, especially in the liver and brain, and produces Kayser-Fleischer rings in the cornea that clinicians can observe with a slit-lamp exam. The rings are a telling clue when neurologic or hepatic symptoms are present, since patients often develop tremor, dysarthria, dystonia, or other movement and psychiatric changes as copper accumulates. In terms of inheritance and presentation, this disease follows an autosomal recessive pattern, which helps explain why siblings may be affected even if parents are asymptomatic carriers. Diagnostic workup typically shows low serum ceruloplasmin and elevated urinary copper excretion, supporting the diagnosis. Treatment centers on removing or limiting copper: copper chelators to promote excretion, and zinc to block intestinal copper absorption, with liver transplantation reserved for severe hepatic failure. The other conditions listed do not feature copper accumulation or Kayser-Fleischer rings, and they lack the characteristic metabolic basis of Wilson disease.

Copper metabolism disorder with corneal copper deposition is Wilson disease, an autosomal recessive condition caused by mutations in ATP7B that impair copper excretion into bile. This leads to progressive copper buildup, especially in the liver and brain, and produces Kayser-Fleischer rings in the cornea that clinicians can observe with a slit-lamp exam. The rings are a telling clue when neurologic or hepatic symptoms are present, since patients often develop tremor, dysarthria, dystonia, or other movement and psychiatric changes as copper accumulates.

In terms of inheritance and presentation, this disease follows an autosomal recessive pattern, which helps explain why siblings may be affected even if parents are asymptomatic carriers. Diagnostic workup typically shows low serum ceruloplasmin and elevated urinary copper excretion, supporting the diagnosis. Treatment centers on removing or limiting copper: copper chelators to promote excretion, and zinc to block intestinal copper absorption, with liver transplantation reserved for severe hepatic failure.

The other conditions listed do not feature copper accumulation or Kayser-Fleischer rings, and they lack the characteristic metabolic basis of Wilson disease.

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