Background Pathogenic 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 presentation A 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. Conclusion This 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.
Fan Yang, Xiao-Qi Wang, Yan Li et al.· Frontiers in Genetics· 0 citations
: High-power renewable-to-hydrogen conversion systems impose stringent and dynamically coupled constraints on semiconductor switching behavior, thermal cycling, and electrolyzer degradation. Conventional IGBT gate driving strategies rely on fixed or heuristically tuned parameters that fail to explicitly account for nonlinear electro-thermal dynamics, parasitic interactions, and downstream electrochemical aging mechanisms under stochastic renewable input. This paper reformulates gate driving as a constrained multi-objective optimal control problem and proposes a physics-guided reinforcement learning (PGRL) framework for adaptive gate trajectory morphing in megawatt-scale hydrogen converters. A unified electro-thermal–electrochemical model is constructed to capture nonlinear switching transients, parasitic inductive–capacitive effects, junction temperature evolution, Miner-based fatigue accumulation, DC-link ripple propagation, and ripple-induced electrolyzer degradation. Physics consistency is enforced through differentiable safety projection, residual regularization against governing dynamic equations, and structured policy parameterization reflecting device topology. The learning objective simultaneously minimizes switching energy, voltage overshoot, electromagnetic stress, thermal cycling amplitude, and stack degradation rate. Case studies on a 1.2 MW PEM electrolyzer system demonstrate up to 20% reduction in peak junction temperature rise, 50% ripple suppression during renewable gust events, and extension of projected electrolyzer lifetime beyond 10,000 operating hours under uncertainty. The proposed framework establishes a cross-domain bridge between microsecond-scale semiconductor control and multi-year
Yao-Qiang Wang, Kai-Fu Liang, Hai Wang et al.· Energy Engineering· 0 citations
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