Metabolic: Wilson disease: practice question

A Pediatrics question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pediatrics · Metabolic: Wilson disease

Sample item

A 10-year-old has Kayser-Fleischer rings, haemolytic anaemia and raised transaminases. Which test pattern is expected?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

C. Low serum ceruloplasmin with high 24-hour urinary copper

Wilson disease is an autosomal recessive disorder of ATP7B causing copper accumulation in liver and brain. Ceruloplasmin is low and urinary copper is high, with hepatic copper above 250 micrograms per gram dry weight. Treatment is penicillamine or trientine and zinc.

Option by option

  • A. High serum copper-binding capacity

    Copper-binding capacity is reduced.

  • B. High ceruloplasmin and low urinary copper

    The reverse pattern would exclude Wilson disease.

  • C. Low serum ceruloplasmin with high 24-hour urinary copper (correct)

    Correct. Low ceruloplasmin and high urinary copper.

  • D. Low ferritin

    Ferritin is not the test for Wilson disease.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Pediatrics question

What is the answer to this Pediatrics question?

The best answer is C, Low serum ceruloplasmin with high 24-hour urinary copper. Wilson disease is an autosomal recessive disorder of ATP7B causing copper accumulation in liver and brain.

Why is "High serum copper-binding capacity" not the answer?

Copper-binding capacity is reduced.

Why is "High ceruloplasmin and low urinary copper" not the answer?

The reverse pattern would exclude Wilson disease.

Why is "Low ferritin" not the answer?

Ferritin is not the test for Wilson disease.

What concept does this question test?

It tests Metabolic: Wilson disease in Pediatrics. Ceruloplasmin is low and urinary copper is high, with hepatic copper above 250 micrograms per gram dry weight. Treatment is penicillamine or trientine and zinc.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Metabolic: Wilson disease?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.