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Alport syndrome — a genetic collagen defect affecting kidneys, hearing, and eyes. X-linked in most families; the progression to kidney failure and how ACEi/ARB slow it.
Evidence reviewed & updated: 2026-08 — reflects the latest published trials and guidelines.
Alport syndrome is a genetic disease of collagen IV — the scaffold of kidney filters, inner ear, and eye membranes. It causes blood in the urine from childhood, progressive kidney failure, hearing loss, and characteristic eye changes. There's no cure, but ACE inhibitors started early substantially delay kidney failure.
Alport syndrome comes from defective collagen IV — the structural protein of the glomerular basement membrane. The X-linked form (COL4A5) is most common: men are severely affected, women are carriers with usually milder disease (but not always). Autosomal forms (COL4A3/COL4A4) affect both sexes equally.
Some variants cause 'thin basement membrane nephropathy' (benign blood in urine); others progress to kidney failure — genetic testing clarifies the outlook and guides family screening.
Kidneys: persistent blood in urine from childhood, then proteinuria, then declining eGFR. Ears: high-frequency sensorineural hearing loss, typically appearing in late childhood through the teens — it tracks with kidney severity. Eyes: anterior lenticonus (cone-shaped lens) and retinal flecks — visible on eye exam and useful diagnostically.
The triad (kidney + hearing + eyes) confirms the diagnosis; genetic testing confirms the gene.
There's no cure, but treatment genuinely changes outcomes: ACE inhibitors or ARBs started early — even before proteinuria develops — slow the loss of kidney function, with some of the strongest evidence in Alport syndrome. Blood pressure control is standard.
Hearing aids for hearing loss, eye follow-up, and genetic counseling complete care. When kidney failure develops, transplant is highly successful (the new kidney isn't affected by the collagen defect).
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