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Alport syndrome — MCCQE Part 1 MCQ

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HardBlood in UrineAlport syndromeMCCQE Part 1

A 30-year-old woman has progressive bilateral sensorineural hearing loss, haematuria, and proteinuria. Family history of renal failure in male relatives. Most likely diagnosis?

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Correct answer: D — Alport syndrome

Sensorineural hearing loss + haematuria + family history (X-linked dominant, severe in males) = Alport syndrome (type IV collagen mutation). Renal biopsy: thinning/splitting of GBM. Progresses to ESRD in males.

Reference: Canadian Nephrology Guidelines