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Thin basement membrane disease — RACP Paediatrics MCQ

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HardNephrologyThin basement membrane diseaseRACP Paediatrics

A 7-year-old boy is found to have persistent microscopic haematuria on routine testing. There is no proteinuria. Blood pressure is normal. Hearing test is normal. His mother also has microscopic haematuria. What is the most likely diagnosis?

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Correct answer: B — Thin basement membrane disease

Persistent isolated microscopic haematuria with a family history of benign haematuria, normal hearing, normal renal function, and no proteinuria is consistent with thin basement membrane disease (benign familial haematuria). It has an autosomal dominant inheritance pattern. Prognosis is excellent. Alport syndrome should be considered if there is a family history of renal failure or hearing loss.

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