Krueger Darcy A, Franz David N
Tuberous Sclerosis Clinic, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Paediatr Drugs. 2008;10(5):299-313. doi: 10.2165/00148581-200810050-00004.
Tuberous sclerosis complex (TSC) is an important cause of epilepsy, autism, and renal and pulmonary disease in children and adults. The clinical course of TSC and the prognosis and appropriate therapy for TSC patients are often different than that for individuals with epilepsy, renal tumors, or interstitial lung disease from other causes. This article reviews the current therapeutic recommendations for medical and surgical management of neurologic, renal, and pulmonary manifestations of TSC. In addition, recent clinical trials using inhibitors of the mammalian target of rapamycin (mTOR) have demonstrated regression of astrocytomas, angiofibromas, and angiomyoliomas, as well as improved pulmonary function in persons with TSC.
结节性硬化症(TSC)是儿童和成人癫痫、自闭症以及肾脏和肺部疾病的重要病因。TSC的临床病程以及TSC患者的预后和适当治疗通常与其他病因导致的癫痫、肾肿瘤或间质性肺病患者不同。本文综述了目前针对TSC神经、肾脏和肺部表现的药物及手术治疗的推荐建议。此外,近期使用雷帕霉素哺乳动物靶点(mTOR)抑制剂的临床试验已证明,TSC患者的星形细胞瘤、血管纤维瘤和血管平滑肌脂肪瘤出现消退,且肺功能得到改善。