Endocrinology: familial hypocalciuric hypercalcaemia: practice question

A General Medicine 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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General Medicine · Endocrinology: familial hypocalciuric hypercalcaemia

Sample item

An asymptomatic patient has mild hypercalcaemia, high-normal PTH and a calcium to creatinine clearance ratio of 0.005. What is the diagnosis?

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

The answer and the reasoning

A. Familial hypocalciuric hypercalcaemia

Familial hypocalciuric hypercalcaemia results from an inactivating calcium-sensing receptor mutation. It shows low urinary calcium excretion (clearance ratio below 0.01) and needs no surgery. Primary hyperparathyroidism has a ratio above 0.02.

Option by option

  • A. Familial hypocalciuric hypercalcaemia (correct)

    Correct. Low calcium clearance with hypercalcaemia fits FHH.

  • B. Vitamin D intoxication

    Vitamin D toxicity suppresses PTH.

  • C. Hypercalcaemia of malignancy

    Malignancy suppresses PTH and has high urinary calcium.

  • D. Primary hyperparathyroidism

    Primary hyperparathyroidism has high urinary calcium.

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 General Medicine question

What is the answer to this General Medicine question?

The best answer is A, Familial hypocalciuric hypercalcaemia. Familial hypocalciuric hypercalcaemia results from an inactivating calcium-sensing receptor mutation.

Why is "Vitamin D intoxication" not the answer?

Vitamin D toxicity suppresses PTH.

Why is "Hypercalcaemia of malignancy" not the answer?

Malignancy suppresses PTH and has high urinary calcium.

Why is "Primary hyperparathyroidism" not the answer?

Primary hyperparathyroidism has high urinary calcium.

What concept does this question test?

It tests Endocrinology: familial hypocalciuric hypercalcaemia in General Medicine. It shows low urinary calcium excretion (clearance ratio below 0.01) and needs no surgery. Primary hyperparathyroidism has a ratio above 0.02.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. 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 Endocrinology: familial hypocalciuric hypercalcaemia?

For each disease know the classic presentation, the best test, and the first-line treatment. Then use the flashcards and the other General Medicine 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.