Natural history of patients with familial focal segmental glomerulosclerosis associated with TRPC6 variants

Key Points

• To investigate the variation in disease characteristics associated with TRPC6 variants in patients with FSGS.
• Conducted genetic analysis of patients with familial focal segmental glomerulosclerosis (FSGS).
• Identified novel TRPC6 variants to enhance understanding of disease variability.
• Expanded the known mutational spectrum of TRPC6 variants.
• Demonstrated the significance of genetic data in predicting patient outcomes.