Fig. 1: Visual summary of current standard of care treatment recommendations and individual lifetime risk for ESRF according to the gene variant and additional risk factors.

Red: patients with—classical‖ Alport syndrome and a 100% risk for early ESRF. Therapy should be initiated at diagnosis (in children 2 years and older) at very early stages of disease. Nephroprotective therapy has the potential to reduce lifetime risk for ESRF to 50% in those with less severe missense variants. Yellow: heterozygous patients with an intermediate lifetime risk of 5 to 40% for ESRF. If therapy is initiated early at microalbuminuria (or even micro-haematuria in patients with additional risk factors), nephroprotective therapy has the potential to reduce lifetime risk to 1 to 5%, only. Green: heterozygous individuals with a low risk for ESRF, which is <1%, if patients remain in a disease management programme to check for additional risk factors for their lifetime.