Luo Qiulin, Zheng Xinguo, Xu Ye, Fan Yuxi, Zhang Hedong, Li Tengfang, Zhang Xiangqi, Peng Longkai, Jiang Xin, Dai Helong
Department of Immunology, School of Basic Medical Science, Central South University, Changsha, Hunan, 410013, China.
Department of Kidney Transplantation, Center of Organ Transplantation, The Second Xiangya Hospital of Central South University, Changsha, Hunan, 410011, China.
BMC Nephrol. 2025 Jul 1;26(1):316. doi: 10.1186/s12882-025-04260-7.
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by multisystem involvement, primarily caused by loss-of-function mutations in the TSC1 or TSC2 genes. TSC is a key integrator of metabolic signaling and cellular stress and has become an important regulator in several kidney diseases. TSC1 and TSC2 can be used not only as genetic markers for disease diagnosis, but also as potential immunotherapeutic targets for kidney disease. Recent studies on the pathogenesis of TSC may provide guidance for developing new treatment strategies for kidney diseases.
Therefore, we systematically reviewed the molecular biology of TSC and their signaling pathway, regulation of cell metabolism, and immune response in acute renal injury, chronic kidney disease, diabetic kidney disease, renal cysts, benign and malignant intrarenal tumors, and renal angiomyolipomas. We also summarize the efficacy and adverse effects of mTOR inhibitors in the treatment of TSC-related kidney diseases.
结节性硬化症（TSC）是一种常染色体显性遗传疾病，其特征为多系统受累，主要由TSC1或TSC2基因的功能丧失性突变引起。TSC是代谢信号和细胞应激的关键整合因子，已成为多种肾脏疾病的重要调节因子。TSC1和TSC2不仅可作为疾病诊断的遗传标志物，还可作为肾脏疾病潜在的免疫治疗靶点。近期关于TSC发病机制的研究可能为开发肾脏疾病的新治疗策略提供指导。
因此，我们系统综述了TSC的分子生物学及其信号通路、细胞代谢调节以及在急性肾损伤、慢性肾病、糖尿病肾病、肾囊肿、肾良恶性肿瘤和肾血管平滑肌脂肪瘤中的免疫反应。我们还总结了mTOR抑制剂治疗TSC相关肾脏疾病的疗效和不良反应。
Zotero 插件
