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

Heidi Sarrasin; Daniel Sidler; Deborah Bartholdi; Christiane Zweier; Vincenzo Girardi; Bruno Vogt; Federica Bocchi

doi:10.1093/joneph/aajaf054

January 6, 2026Journal of Nephrology

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

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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.

Implication

Reveals genotype-phenotype variability in TRPC6-related FSGS, highlighting its clinical implications.

Abstract

This study contributes to a broader understanding of the genotype-phenotype variability in TRPC6-associated FSGS and expands the mutational spectrum by identifying a novel TRPC6 variant, underscoring the importance of genetic analysis in guiding patient prognosis and personalised management strategies.

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Cite This Study

Sarrasin et al. (2026) studied this question.

synapsesocial.com/papers/69eb09ff553a5433e34b4309 https://doi.org/10.1093/joneph/aajaf054

View Full Paper

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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