Q1: Correct answer: B
A serum ceruloplasmin less than 5 mg/L and a 24-hour urine copper excretion greater than 100 mcg/24 hours are both highly suggestive of Wilson's disease, a disorder of copper metabolism caused by a mutation in a P-type ATP-ase that mediates the excretion of copper into the bile. Treatment of Wilson's disease consists of copper chelation therapy. Commonly used therapies include D-penicillamine, trientine, and zinc. Patients on therapy should have 24-hour urine copper determination every 6-12 months. Patients on maintenance trientine or D-penicillamine should have urine copper excretion of 200-500 mcg/24 hours. Patients on zinc therapy should have much lower copper excretion, in the range of 75 mcg/24 hours.
1. European Association for the Study of the Liver. EASL clinical practice guidelines: Wilson's disease. J Hepatol. 2012;56:671-85.
2. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: An update. Hepatology. 2008;47:2089-111.