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Alport Syndrome — ESENeph MCQ

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EasyGlomerulonephritisAlport SyndromeESENeph

A 22-year-old man presents with gross haematuria, sensorineural hearing loss, and lenticonus on ophthalmological examination. His maternal uncle required dialysis at age 30. Kidney biopsy shows GBM thinning and splitting on electron microscopy. What is the diagnosis?

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Correct answer: D — Alport syndrome (X-linked)

The triad of haematuria, sensorineural hearing loss, and anterior lenticonus is classic for Alport syndrome. X-linked Alport (COL4A5 mutation) is the most common form (80%), explaining why the maternal uncle is affected. Electron microscopy showing GBM thinning, thickening, and characteristic lamellation ('basket-weave' splitting) is diagnostic. Thin basement membrane disease has uniform GBM thinning without splitting. Fabry disease causes podocyte inclusions but not hearing loss in this pattern.

Reference: KDIGO 2021 – Glomerular Disease Guideline; Kashtan 2021 – Alport Syndrome Review