Renal: Alport syndrome: 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: Alport syndrome

Sample item

A 10-year-old boy has persistent haematuria and a high-frequency sensorineural hearing loss. An ophthalmologist notes anterior lenticonus, and his maternal uncle needed dialysis in his twenties. Which protein is defective?

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

The answer and the reasoning

D. Alpha-5 chain of type IV collagen

Alport syndrome is most often X-linked, caused by COL4A5 mutations that disrupt the type IV collagen network of the glomerular basement membrane, cochlea and lens. Electron microscopy shows a thickened, split and lamellated basement membrane with a basket-weave look. Males are severely affected and progress to end-stage kidney disease.

Option by option

  • A. Fibrillin-1

    Fibrillin-1 defects cause Marfan syndrome with lens subluxation upward, aortic root dilation and arachnodactyly.

  • B. Type I collagen

    Type I collagen defects cause osteogenesis imperfecta with fragile bones and blue sclerae.

  • C. Nephrin

    Nephrin mutation causes congenital nephrotic syndrome of the Finnish type, not haematuria with deafness.

  • D. Alpha-5 chain of type IV collagen (correct)

    Correct. Defective alpha-5 type IV collagen causes the triad of nephritis, deafness and lens abnormality.

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 D, Alpha-5 chain of type IV collagen. Alport syndrome is most often X-linked, caused by COL4A5 mutations that disrupt the type IV collagen network of the glomerular basement membrane, cochlea and lens.

Why is "Fibrillin-1" not the answer?

Fibrillin-1 defects cause Marfan syndrome with lens subluxation upward, aortic root dilation and arachnodactyly.

Why is "Type I collagen" not the answer?

Type I collagen defects cause osteogenesis imperfecta with fragile bones and blue sclerae.

Why is "Nephrin" not the answer?

Nephrin mutation causes congenital nephrotic syndrome of the Finnish type, not haematuria with deafness.

What concept does this question test?

It tests Renal: Alport syndrome in Pathology. Electron microscopy shows a thickened, split and lamellated basement membrane with a basket-weave look. Males are severely affected and progress to end-stage kidney disease.

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: Alport syndrome?

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.