Renal: autosomal dominant polycystic kidney disease: practice question

A Pathology 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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Pathology · Renal: autosomal dominant polycystic kidney disease

Sample item

A 40-year-old man with hypertension has bilateral palpable flank masses and haematuria. He suddenly develops a thunderclap headache. Which gene is most commonly mutated in his condition, and what is the associated life-threatening complication?

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

The answer and the reasoning

B. PKD1, with rupture of an intracranial berry aneurysm

Autosomal dominant polycystic kidney disease is caused by PKD1 (polycystin-1, about 85 per cent) or PKD2 mutations and presents in adulthood with bilateral cystic enlargement. Extra-renal features include hepatic cysts, mitral valve prolapse and berry aneurysms, whose rupture causes subarachnoid haemorrhage. Hypertension and progressive renal failure are common.

Option by option

  • A. COL4A5, with sensorineural deafness

    COL4A5 mutation causes X-linked Alport syndrome with haematuria and deafness.

  • B. PKD1, with rupture of an intracranial berry aneurysm (correct)

    Correct. PKD1 is the commonest gene and berry aneurysm rupture is the key complication.

  • C. VHL, with cerebellar haemangioblastoma

    VHL mutation causes von Hippel-Lindau disease with haemangioblastoma and clear cell renal carcinoma.

  • D. PKHD1, with congenital hepatic fibrosis

    PKHD1 mutation causes autosomal recessive polycystic kidney disease of infancy.

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 Pathology question

What is the answer to this Pathology question?

The best answer is B, PKD1, with rupture of an intracranial berry aneurysm. Autosomal dominant polycystic kidney disease is caused by PKD1 (polycystin-1, about 85 per cent) or PKD2 mutations and presents in adulthood with bilateral cystic enlargement.

Why is "COL4A5, with sensorineural deafness" not the answer?

COL4A5 mutation causes X-linked Alport syndrome with haematuria and deafness.

Why is "VHL, with cerebellar haemangioblastoma" not the answer?

VHL mutation causes von Hippel-Lindau disease with haemangioblastoma and clear cell renal carcinoma.

Why is "PKHD1, with congenital hepatic fibrosis" not the answer?

PKHD1 mutation causes autosomal recessive polycystic kidney disease of infancy.

What concept does this question test?

It tests Renal: autosomal dominant polycystic kidney disease in Pathology. Extra-renal features include hepatic cysts, mitral valve prolapse and berry aneurysms, whose rupture causes subarachnoid haemorrhage. Hypertension and progressive renal failure are common.

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 Renal: autosomal dominant polycystic kidney disease?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology 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.