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Alport syndrome — RACP Paediatrics MCQ

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HardNephrologyAlport syndromeRACP Paediatrics

A 12-year-old boy has persistent microscopic haematuria and mild proteinuria. He has bilateral sensorineural hearing loss. His maternal uncle required renal transplant at age 30. What is the most likely diagnosis?

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Correct answer: D — Alport syndrome

Haematuria with proteinuria, sensorineural hearing loss, and a family history of progressive renal failure (typically in males via maternal inheritance) is characteristic of Alport syndrome. It is caused by mutations in type IV collagen genes (most commonly X-linked, COL4A5). Anterior lenticonus is a pathognomonic ocular finding.

Reference: RCH Melbourne – 2023 – Haematuria CPG; RACP Paediatric Curriculum – Nephrology/Genetics