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A novel TRPC6 variant (c.131C>T; p.(Pro44Leu)) associated with focal segmental glomerulosclerosis: a case report
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DOI：10.3389/fgene.2026.1913168.png)
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Abstract
En 中文
BackgroundPathogenic variants in the transient receptor potential cation channel subfamily C member 6 (TRPC6) cause autosomal dominant focal segmental glomerulosclerosis (FSGS). We report a patient with early-onset FSGS carrying a novel TRPC6 variant not previously described.Case presentationA 21-year-old Chinese male presented with proteinuria (3.17g/24h) and mild renal insufficiency (Cr 103 μmol/L). Renal biopsy confirmed FSGS; not otherwise specified (NOS). Genetic testing was initially declined due to cost concerns. He received losartan; dapagliflozin; strict salt restriction; and ambrisentan; achieving proteinuria reduction to 0.7g/24h without immunosuppression. Two years later; genetic testing identified a novel TRPC6 variant: c.131C>T p.(Pro44Leu); extremely rare in public databases and classified as a variant of uncertain significance.ConclusionThis is the first report of the TRPC6 p.Pro44Leu variant; expanding the variant spectrum of TRPC6-associated FSGS. The clinical decision to withhold immunosuppression was guided primarily by the patient’s phenotype (young age; sub-nephrotic proteinuria; FSGS-NOS; and no secondary causes); the TRPC6 variant; although classified as a VUS; provided supportive evidence for a genetic etiology and reinforced this management approach. This case demonstrates that genetic testing can guide personalized management in young patients with FSGS; offering a practical framework for avoiding unnecessary treatment-related morbidity. This case also illustrates that cost and psychological barriers can delay genetic diagnosis and highlights the value of early supportive therapy in genetic FSGS.
Keywords:
case report
focal segmental glomerulosclerosis
podocytopathy
novel variant
TRPC6
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