Alport syndrome
Type IV collagen (COL4A3, COL4A4, COL4A5) disease from persistent haematuria to kidney failure, the inheritance patterns and their risks, deafness and anterior lenticonus, genetic testing before biopsy, when to start an ACE inhibitor, and anti-GBM disease after transplant. Includes what used to be called thin basement membrane nephropathy.
Tier 2Condition
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- Inherited disease of type IV collagen alpha-3, alpha-4 and alpha-5 chains in the glomerular basement membrane (GBM), cochlea and eye.
- Presents with persistent microscopic haematuria from childhood, then proteinuria, hypertension and progressive CKD, with sensorineural deafness and eye signs in severe forms.
- Genetic testing is the first diagnostic test. ACE inhibitors started early delay kidney failure.
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Sources
- Savige J et al. Guidelines for genetic testing and management of Alport syndrome. Clin J Am Soc Nephrol 2022;17(1):143-54American Society of Nephrology, 2022 (erratum 2023)
- Torra R et al. Diagnosis, management and treatment of the Alport syndrome: 2024 guideline on behalf of ERKNet, ERA and ESPN. Nephrol Dial Transplant 2025;40(6):1091-1106Nephrology Dialysis Transplantation, 2024 guideline, published 2025
- Lennon R, Miner JH, Savige J, Weinstock BA, Gear S. Alport: renaming an extended clinical spectrum. J Am Soc Nephrol 2026;37(9):2062-4American Society of Nephrology, 2026
- Kashtan CE et al. Alport syndrome: a unified classification of genetic disorders of collagen IV alpha345. Kidney Int 2018;93(5):1045-51Kidney International, 2018
- Gross O et al. Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney Int 2012;81(5):494-501Kidney International, 2012
- KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular DiseasesKidney Disease Improving Global Outcomes, 2021 (updated chapter by chapter; no Alport chapter, checked November 2026)
- KidGen Collaborative (Australian renal genetics clinics)AU/NZKidGen, checked November 2026
- Last updated
- 14 November 2026
What changed
- 14 November 2026 Turnstile bot check on sign-in and signed-out feedback