Universidade do Estado da Bahia, Departamento de Ciências da Vida, Salvador BA, Brazil.
Escola Bahiana de Medicina e Saúde Pública, Departamento de Medicina, Salvador BA, Brazil.
Arq Neuropsiquiatr. 2023 Apr;81(4):392-398. doi: 10.1055/s-0042-1758442. Epub 2023 Mar 2.
Tuberous sclerosis (TS) is a multisystem genetic disease in which epilepsy is a frequent manifestation and is often difficult to control. Everolimus is a drug with proven efficacy in the treatment of other conditions related to TS, and some evidence suggests that its use benefits the treatment of refractory epilepsy in these patients.
To evaluate the efficacy of everolimus in controlling refractory epilepsy in children with TS.
A literature review was conducted in the Pubmed, BVS, and Medline databases, using the descriptors , , , and . Original clinical trials and prospective studies published in Portuguese or English in the last decade that evaluated the use of everolimus as an adjuvant therapy in the control of refractory epilepsy in pediatric patients with TS were included.
Our search screened 246 articles from electronic databases, 6 of which were chosen for review. Despite the methodological variations between the studies, most patients benefited from the use of everolimus to control refractory epilepsy, with response rates ranging from 28.6 to 100%. Adverse effects were present in all studies leading to dropouts of some patients; however, the majority were of low severity.
The selected studies suggest a beneficial effect of everolimus in the treatment of refractory epilepsy in children with TS, despite the adverse effects observed. Further studies involving a larger sample in double-blind controlled clinical trials should be performed to provide more information and statistical credibility.
结节性硬化症（TS）是一种多系统遗传疾病，其特征为癫痫发作频繁，且常常难以控制。依维莫司是一种已被证实对与 TS 相关的其他疾病具有疗效的药物，有证据表明其对治疗这些患者的耐药性癫痫有益。
评估依维莫司在控制 TS 儿童耐药性癫痫中的疗效。
在 Pubmed、BVS 和 Medline 数据库中使用、、、等主题词进行文献检索，纳入近十年来评估依维莫司作为辅助治疗在控制 TS 儿童耐药性癫痫中的使用情况的原始临床试验和前瞻性研究。
我们从电子数据库中筛选出 246 篇文章，其中有 6 篇被选中进行综述。尽管研究之间存在方法学差异，但大多数患者从依维莫司控制耐药性癫痫中获益，反应率从 28.6%到 100%不等。所有研究均存在不良反应，导致部分患者停药，但大多数不良反应的严重程度较低。
尽管观察到不良反应，但所选研究表明依维莫司对治疗 TS 儿童耐药性癫痫具有有益的效果。应进行涉及更大样本量的双盲对照临床试验，以提供更多信息和统计可信度。
