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Wilson disease (WD) is an autosomal recessive disorder (ATP7B gene on chromosome 13) that results in progressive copper overload.
- Female-to-male ratio is 2:1.
- Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. This results in hepatic copper accumulation and injury. Eventually, copper is released into the bloodstream and deposited in other organs, notably the brain, kidneys, and cornea.
- Extrahepatic manifestations include Kayser–Fleischer rings in the Descemet membrane in the periphery of the cornea because of copper deposition (diagnosed on slit-lamp examination), Coombs-negative hemolytic anemia, renal tubular acidosis, arthritis, osteopenia, and cardiomyopathy.