Systemic paediatrics: congenital nephrotic syndrome: 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 · Systemic paediatrics: congenital nephrotic syndrome

Sample item

A 6-week-old has generalised oedema, heavy proteinuria, hypoalbuminaemia and hyperlipidaemia. The placenta was large, alpha-fetoprotein was raised in pregnancy, and there is no response to prednisolone. Which gene is most likely mutated?

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

The answer and the reasoning

A. NPHS1

Finnish-type congenital nephrotic syndrome results from NPHS1 mutations in the slit diaphragm protein nephrin. It presents in the first months with a large placenta and raised alpha-fetoprotein, and is steroid resistant. Management is nutritional support, albumin, early nephrectomy and transplantation.

Option by option

  • A. NPHS1 (correct)

    Correct. NPHS1 mutation affecting nephrin causes severe congenital nephrosis with a large placenta.

  • B. COL4A5

    COL4A5 mutations cause X-linked Alport syndrome, with haematuria and deafness.

  • C. NPHS2

    NPHS2 mutations (podocin) cause steroid-resistant nephrotic syndrome that typically starts later in childhood.

  • D. WT1

    WT1 mutations cause Denys-Drash syndrome with diffuse mesangial sclerosis and genital anomalies.

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 A, NPHS1. Finnish-type congenital nephrotic syndrome results from NPHS1 mutations in the slit diaphragm protein nephrin.

Why is "COL4A5" not the answer?

COL4A5 mutations cause X-linked Alport syndrome, with haematuria and deafness.

Why is "NPHS2" not the answer?

NPHS2 mutations (podocin) cause steroid-resistant nephrotic syndrome that typically starts later in childhood.

Why is "WT1" not the answer?

WT1 mutations cause Denys-Drash syndrome with diffuse mesangial sclerosis and genital anomalies.

What concept does this question test?

It tests Systemic paediatrics: congenital nephrotic syndrome in Pediatrics. It presents in the first months with a large placenta and raised alpha-fetoprotein, and is steroid resistant. Management is nutritional support, albumin, early nephrectomy and transplantation.

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 Systemic paediatrics: congenital nephrotic syndrome?

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.