摘要
CDKL5缺乏症(CDKL5 deficiency disorder,CDD),又被称为发育性癫痫性脑病,是一种X-连锁显性遗传的神经系统罕见病。其主要临床表现包括:难于控制的癫痫发作、认知障碍、运动发育落后、视觉受损、睡眠障碍、胃肠道功能损害、自主神经功能障碍及孤独症样表现等,其致残率高、疾病负担重,给社会和家庭带来了沉重负担。但目前国内外对该病的研究主要集中在临床表型和发病机制方面,鲜少有涉及各系统的规范的临床管理相关研究。因此,由美国、欧洲和英国的CDD专家组成的核心委员会进行了为期6个月的调查(2020年8月—2021年1月),根据德菲尔研究方法制定了《国际共识:CDKL5缺乏症患者的评估和管理建议》(以下简称《共识》)。本《共识》邀请了多学科专家针对CDD的诊断、治疗及全身各系统的临床管理提出了诊疗建议,这将为规范临床医生对CDD的诊疗行为提供了循证依据。本文对该《共识》进行解读,便于该病的长程管理。
CDKL5 deficiency disorder(CDD),also known as developmental epileptic encephalopathy,is a rare Xlinked dominant disease of the nervous system.Its main clinical manifestations include:uncontrollable seizures,cognitive impairment,motor retardation,visual impairment,sleep disorders,gastrointestinal impairment,autonomic nervous dysfunction,and autistic like manifestations.Its high disability rate and heavy disease burden bring heavy burden to society and family.However,the current domestic and foreign studies on this disease mainly focus on the clinical phenotype and pathogenesis,and there are few studies involving the standard clinical management of various systems.Therefore,a core committee composed of CDD experts from the United States,Europe,and the United Kingdom conducted a six-month investigation(August 2020—January 2021)and developed the international consensus:recommendations for the assessment and management of CDKL5 deficiency patients(hereafter referred to as the Consensus)based on the Durfel research methodology.This consensus invites multidisciplinary experts to put forward diagnosis and treatment suggestions for the diagnosis and treatment of CDD as well as the clinical management of various systemic systems,which will provide evidence-based basis for regulating the diagnosis and treatment behaviors of clinicians for CDD.In this paper,the consensus was interpreted to facilitate the long-term management of the disease.
作者
周芳
崔玉霞
汪希珂
刘开宇
周浩
ZHOU Fang;CUI Yuxia;WANG Xike;LIU Kaiyu;ZHOU Hao(Department of Pediatrics,Guizhou Provincial People's Hospital,Guiyang 550002,China)
出处
《癫痫杂志》
2023年第3期248-254,共7页
Journal of Epilepsy
关键词
CDKL5缺乏症
评估
管理
国际共识
CDKL5 deficiency disorder
Assessment
Management
International consensus
