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结节性硬化症(TSC)是一种累及多器官的常染色体显性遗传综合征,近年来其治疗方面已取得一定进展。mTOR抑制剂能持续抑制mTOR靶点,缩小室管膜下星形细胞瘤和血管肌脂瘤的体积,具有改善患者肺功能、控制癫痫发作的作用。目前美国FDA已批准西罗莫司用于治疗淋巴管平滑肌瘤,依维莫司用于治疗不能手术的伴有室管膜下巨细胞星形细胞瘤或肾血管肌脂瘤的TSC患者。mTOR抑制剂治疗TSC的有效性和安全性有待进一步深入研究。
Tuberous sclerosis (TSC) is a multi-organ involving the autosomal dominant syndrome, its treatment has made some progress in recent years. mTOR inhibitors can continue to inhibit mTOR target, reduce the volume of subependymal astrocytoma and angio-angioma, improve lung function and control seizures. At present, the United States FDA has approved sirolimus for the treatment of lymphangioleiomyoma, and everolimus for the treatment of inoperable TSC patients with subependymal giant cell astrocytoma or renovascular angiomyolipoma. The effectiveness and safety of mTOR inhibitors in the treatment of TSC needs further study.