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.
Increase in urinary copper and increased serum ceruloplasmin and copper
Increased serum ceruloplasmin levels with increased urinary copper
Elevated hepatic copper level and increased serum ceruloplasmin levels
Increased in urinary copper and decreased serum ceruloplasmin