Davies Mark, Saxena Anurag, Kingswood John C
Department of Oncology, South West Wales Cancer Centre, Singleton Hospital, Swansea, SA2 8QA, UK.
Division of Cancer and Genetics, Cardiff University School of Medicine, Institute of Medical Genetics, Cardiff, CF14 4XN, UK.
Orphanet J Rare Dis. 2017 Feb 15;12(1):35. doi: 10.1186/s13023-017-0581-9.
Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is indicated for the treatment of adult TSC patients with renal angiomyolipomas (AMLs) and for subependymal giant astrocytoma (SEGA) in both adults and children, based on data from the EXIST-1 and EXIST-2 trials. However, due to the historical predominance of everolimus in the oncology setting, some physicians who treat TSC patients may be unfamiliar with everolimus-associated adverse events (AEs) and appropriate management strategies. This article aims to serve as a resource for specialists including nephrologists, paediatricians, neurologists and geneticists who require practical guidance on the management of events such as non-infectious pneumonitis, rash, stomatitis, infections, and renal AEs. Additional consideration is given to drug interactions, hepatic impairment, fertility, and sexual maturation. Since patients with TSC receive clinical benefit from continued therapy, it is important that everolimus-related events are dealt with appropriately through strategies such as dose modification, interruption, the provision of supportive care, regular monitoring, and patient education.
结节性硬化症（TSC）是一种遗传性疾病，其特征是合并功能障碍高度可变且随后出现发病情况。基于EXIST - 1和EXIST - 2试验的数据，mTOR抑制剂依维莫司被用于治疗患有肾血管平滑肌脂肪瘤（AML）的成年TSC患者以及成人和儿童的室管膜下巨细胞星形细胞瘤（SEGA）。然而，由于依维莫司在肿瘤学领域长期占据主导地位，一些治疗TSC患者的医生可能不熟悉与依维莫司相关的不良事件（AE）及适当的管理策略。本文旨在为包括肾病学家、儿科医生、神经科医生和遗传学家在内的专家提供参考，这些专家在处理诸如非感染性肺炎、皮疹、口腔炎、感染和肾脏不良事件等情况时需要实际指导。此外，还考虑了药物相互作用、肝功能损害、生育能力和性成熟等问题。由于TSC患者通过持续治疗可获得临床益处，因此通过剂量调整、中断治疗、提供支持性护理、定期监测和患者教育等策略妥善处理与依维莫司相关的事件非常重要。
