Thematic Area: Alport Syndrome

Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN

Reference: Torra, Roser et al. “Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.” Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, gfae265. 2 Dec. 2024, doi:10.1093/ndt/gfae265

Key recommendations: 

• Genetic testing for COL4A3/4/5 should be part of the initial workup for individuals with persistent hematuria, proteinuria, unexplained kidney failure, or FSGS of unknown oirigin and possibly cystic kidney disease.
• Early renin-angiotensin system (RAS) blockade is the standard treatment.
• SGLT2 inhibitors may be added for adults with proteinuria and chronic kidney disease.
• Heterozygous carriers should be considered for living kidney donation as the last possible resource, but may be acceptable under certain circumstances. 

Watch the video abstract presented by Dr. Roser Torra here

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Reference: Savige, J., Storey, H., Watson, E. et al. Eur J Hum Genet (2021). doi: 10.1038/s41431-021-00858-1

Expert consensus guidelines for the genetic diagnosis of Alport syndrome

Reference: Savige, J., Ariani, F., Mari, F. et al. Pediatr Nephrol (2019). doi: 10.1007/s00467-018-3985-4