True about wilson’s disease –
Correct Answer: Increased in urinary copper and decreased serum ceruloplasmin
Description: 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.
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
Serum free copper (unbound copper)
Greater than 25 mg in symptomatic pts (normal < 10)
Slit lamp detection of Kayser Fleischer Rings
24 hour urinary copper excretion
May exceed 100 mg/24 h-use metal free container
False + with sign. Proteinuria (ceruloplasmin loss)
Liver biopsy
> 250 g/g copper dry weight in homozygotes (normal < 50).
Cholestatic diseases (PBC/PSC) may have elevated hepatic copper dry weight.
Category:
Pediatrics
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now