IL-1β/IL-1R1轴在发热感染相关性癫痫综合征中作用的研究进展

Research Progress on the Role of IL-1β/IL-1R1 Axis in Febrile Infection-related Epilepsy Syndrome

关键词:  发热感染相关性癫痫综合征  白介素-1β  神经炎症  阿那白滞素

Key words:  febrile infection-related epilepsy syndrome  IL-1β  neurogenic inflammation  anakinra

摘要:

发热感染相关性癫痫综合征(febrile infection-related epilepsy syndrome，FIRES)是一种罕见的灾难性癫痫性脑病，多发生于学龄期健康儿童，进展迅速，导致严重的神经功能障碍、慢性癫痫，具有较高死亡率。FIRES的治疗困难，患者预后差。FIRES的确切发病机制尚不明确，可能与大脑中暴发性的神经源性炎症有关。近年来越来越多研究表明IL-1β/IL-1R1轴信号通路可能在FIRES发挥重要作用，白介素-1受体拮抗剂基因(interleukin-1 receptor antagonist gene，IL1RN)基因突变可能对FIRES的发生有一定的调控作用，在临床上，白介素1受体1(interleukin-1 receptor 1，IL-1R1)的拮抗剂阿那白滞素可能有助于控制FIRES患者的癫痫发作。本综述旨在以IL-1β/IL-1R1轴信号通路为切入点，探讨FIRES的发病机制，为基于该通路的临床诊治和药物研发提供理论支持。

Abstract:

Febrile infection-related epilepsy syndrome(FIRES) is a rare and catastrophic epileptic encephalopathy that mostly occurs in healthy school-age children and progresses rapidly and it causes severe neurological dysfunction, chronic epilepsy and has a high mortality rate. FIRES was difficult to treat and patients had a poor prognosis. The exact pathogenesis of FIRES is unclear and may be related to fulminant neurogenic inflammation in the brain. Recently, more and more studies have shown that IL-1β/IL-1R1 axis signaling pathway may play an important role in FIRES. The mutation of interleukin-1 receptor antagonist gene(IL1RN) may have regulation effect on the occurrence of FIRES to some extent. Clinically, anakinra, an interleukin-1 receptor 1(IL-1R1) antagonist, may help control seizures in FIRES patients. The purpose of this review was to explore the pathogenesis of FIRES based on the IL-1β/IL-1R1 axis signaling pathway and to provide theoretical support for clinical diagnosis and drug development based on this pathway.