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Genetic FSGS — RACP Paediatrics MCQ

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HardNephrologyGenetic FSGSRACP Paediatrics

A 4-year-old with steroid-resistant nephrotic syndrome has a renal biopsy showing focal segmental glomerulosclerosis. Genetic testing reveals a mutation in NPHS2 (podocin). What is the implication?

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Correct answer: D — Poor response to immunosuppression; genetic FSGS does not respond to standard immunotherapy

NPHS2 (podocin) mutations cause autosomal recessive FSGS. Genetic forms of FSGS do not respond to immunosuppressive therapy (corticosteroids, CNIs, rituximab). However, recurrence risk after transplant is low (unlike non-genetic FSGS). Genetic testing guides management and transplant counselling.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: SRNS