结节性硬化症的病因及治疗新进展.docxVIP

结节性硬化症的病因及治疗新进展 病因及治疗新进展AbstractTuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the development of benign tumors in multiple organs of the body. This disease can cause serious physical and mental problems, and has a significant impact on the quality of life of patients. The pathogenesis of TSC is complex and involves a series of genetic mutations, environmental factors, and signaling pathways. In recent years, great progress has been made in the understanding of the pathogenesis of TSC, as well as in its diagnosis and treatment. In this paper, we will summarize the latest research on the pathogenesis of TSC, its clinical features, and the therapeutic options currently available for the treatment of this disease.Keywords: Tuberous sclerosis complex, pathogenesis, clinical features, treatment摘要结节性硬化症是一种罕见的遗传性疾病，其特征是在身体多个器官中出现良性肿瘤。这种疾病可能导致严重的身体和心理问题，对患者的生活质量有重大影响。结节性硬化症的发病机制复杂，涉及一系列的基因突变、环境因素和信号通路。近年来，对结节性硬化症的发病机理、临床特点以及治疗方案已经取得了巨大的进展。本文将总结结节性硬化症的最新研究进展，包括其发病机制、临床特征以及目前可用的治疗选项。关键词：结节性硬化症、发病机制、临床特征、治疗I. IntroductionTuberous sclerosis complex (TSC), also known as Bourneville-Pringle disease, is a rare autosomal dominant genetic disorder that affects approximately 1 in 6,000 individuals worldwide (Henske et al., 2016). TSC is caused by mutations in either the TSC1 or TSC2 gene, which encode the proteins hamartin and tuberin, respectively. These proteins form a complex that regulates the activity of the mTOR signaling pathway, which plays a critical role in cell growth, proliferation, and survival. When the TSC1 or TSC2 gene is mutated, the mTOR signaling pathway is dysregulated, leading to the formation of benign tumors, called hamartomas, in multiple organs of the body, including the brain, skin, lungs, kidneys, and heart (Crino et al., 2016).II. Pathogenesis of TSCThe pathogenesis of TSC is complex and involves a series of genetic and environmental factors. Mutations in the TSC1 or TSC2 gene are the major cause of TSC, and th