Medical genetics: autosomal dominant polycystic kidney disease: practice question

A Anatomy 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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Anatomy · Medical genetics: autosomal dominant polycystic kidney disease

Sample item

A 40-year-old has bilateral flank masses, hypertension and haematuria, and his mother died of a subarachnoid haemorrhage. Which gene is most often mutated in this condition?

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

The answer and the reasoning

C. PKD1 on chromosome 16

Autosomal dominant polycystic kidney disease is caused by mutations in PKD1 (about 85% of cases, chromosome 16) or PKD2 (chromosome 4). Berry aneurysms and liver cysts are associated.

Option by option

  • A. PKHD1 on chromosome 6

    PKHD1 causes autosomal recessive polycystic kidney disease.

  • B. PKD2 on chromosome 4

    PKD2 accounts for a minority and gives later onset.

  • C. PKD1 on chromosome 16 (correct)

    Correct. PKD1 accounts for most cases.

  • D. COL4A5 on the X chromosome

    COL4A5 mutation causes X-linked Alport syndrome.

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 Anatomy question

What is the answer to this Anatomy question?

The best answer is C, PKD1 on chromosome 16. Autosomal dominant polycystic kidney disease is caused by mutations in PKD1 (about 85% of cases, chromosome 16) or PKD2 (chromosome 4).

Why is "PKHD1 on chromosome 6" not the answer?

PKHD1 causes autosomal recessive polycystic kidney disease.

Why is "PKD2 on chromosome 4" not the answer?

PKD2 accounts for a minority and gives later onset.

Why is "COL4A5 on the X chromosome" not the answer?

COL4A5 mutation causes X-linked Alport syndrome.

What concept does this question test?

It tests Medical genetics: autosomal dominant polycystic kidney disease in Anatomy. Berry aneurysms and liver cysts are associated.

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 Medical genetics: autosomal dominant polycystic kidney disease?

Learn every nerve by its route, its muscles and what a lesion looks like at the bedside. That one habit answers a large share of questions. Then use the flashcards and the other Anatomy 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.