True about wilson's disease -
Ans. is 'd' i.e., Increased in urinary copper and decreased serum ceruloplasmin Diagnosis of Wilson disease Diagnosis includes the demonstration of a reduced ceruloplasmin level, increased urinary excretion of copper, the presence of Kayser-Fleischer rings in the cornea of the eyes, and an elevated hepatic copper level, in the appropriate clinical setting. o Ceruloplasmin Serum glycoprotein that contains six copper atoms. Copper incorporation into ceruloplasmin is impared in Wilson's disease. 95% of homozygotes have levels < 20mg/dL (rarely are levels > 30 mg/dL). May also be low in other hypoproteinemic states May be low in 20% of asymptomatic heterozygotes o Serum free copper (unbound copper) Greater than 25 mg in symptomatic pts (normal < 10) o Slit lamp detection of Kayser Fleischer Rings o 24 hour urinary copper excretion May exceed 100 mg/24 h-use metal free container False + with sign. Proteinuria (ceruloplasmin loss) o Liver biopsy > 250 g/g copper dry weight in homozygotes (normal < 50). Cholestatic diseases (PBC/PSC) may have elevated hepatic copper dry weight.