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Condition Info
ConditionName
Wilson disease
ConditionDescription
Symptoms
Jaundice; Golden-brown eye discoloration (Kayser-Fleischer rings, for 5-10% the first symptom); Fluid buildup in the legs or abdomen; Problems with speech, cognitive, psychiatric, swallowing or physical coordination; Uncontrolled movements or muscle stiffness; Hepatitis (for 50% of patients, mostly adolescents, the first symptom)
PhysicalFindings
Slit-lamp examination for Kayser-Fleischer rings;
ClinicalTests
Serum ceruloplasmin; Sometimes serum copper, and 24-hour urinary copper excretion; Sometimes confirmation by penicillamine provocation test or liver biopsy;
RiskFactors
IsRedFlag
IsNPLEX
Consequence
Cirrhosis; Liver failure; Death; Persistent neurological problems; Kidney problems; Psychological problems; Blood problems;
ProgressionFromCondition
TreatmentOptions
PharmOptions
WebLink
https://www.merckmanuals.com/professional/nutritional-disorders/mineral-deficiency-and-toxicity/wilson-disease
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