摘要
琥珀酸半醛脱氢酶缺陷病(SSADHD)是一种罕见的常染色体隐性遗传的神经代谢性疾病。ALDH5A1基因致病性变异导致琥珀酸半醛脱氢酶的结构、活性及功能异常而引起一系列神经系统损害。由于SSADHD的罕见性及其临床表现的巨大差异性,往往导致误诊或诊断滞后,本病尚无特效药物或治疗方法,治疗以对症为主。2024年3月,来自11个国家和地区的19个机构的SSADHD研究人员组成共识小组发布了《琥珀酸半醛脱氢酶缺陷病的诊断和管理共识指南》,对SSADHD的定义、流行病学、临床表现、诊断、治疗等方面进行了阐述,旨在规范、统一SSADHD的诊断和管理。现就该指南的重点内容进行解读,以期为我国SSADHD的早期筛查、诊断、治疗提供指导。
Succinic semialdehyde dehydrogenase deficiency(SSADHD)is a rare autosomal recessive neurometabolic disease.Pathogenic mutations in ALDH5A1 genes lead to abnormalities in the structure,activity and function of succinic semialdehyde dehydrogenase,resulting in a series of neurological damage.Due to the rarity of SSADHD and the huge differences in its clinical manifestations,it often leads to misdiagnosis or delayed diagnosis,and the treatment is mainly symptomatic.There is no specific drug or treatment.In March 2024,the SSADHD consensus group,composed of SSADHD researchers from 19 institutions in 11 countries and regions,released the"Consensus Guidelines for the Diagnosis and Management of Succinic Semialdehyde Dehydrogenase Deficiency",which elaborates on the definition,epidemiology,clinical manifestations,diagnosis,and treatment of SSADHD,aiming to standardize and unify the diagnosis and management of SSADHD.This article interprets the key contents of the guidelines,in order to provide guidance for the early screening,diagnosis and treatment of SSADHD in China.
作者
康贝贝
徐磊
余强
范艳萍
祝莉洁
郑雪媚
曹建国
王家勤
Kang Beibei;Xu Lei;Yu Qiang;Fan Yanping;Zhu Lijie;Zheng Xuemei;Cao Jianguo;Wang Jiaqin(Department of Child Health Care,Futian District Maternal and Child Health Hospital,Shenzhen 518038,China;Department of Child Neurological Rehabilitation,Shenzhen Maternal and Child Health Hospital,Shenzhen 518038,China;Department of Child Rehabilitation,Maternal and Child Health Hospital,Dapeng New Area,Shenzhen 518116,China;Department of Rehabilitation,Shenzhen Children′s Hospital,Shenzhen 518038,China;Department of Child Rehabilitation,Third Affiliated Hospital of Xinxiang Medical University,Xinxiang 453003,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2024年第10期738-742,共5页
Chinese Journal of Applied Clinical Pediatrics
基金
广东省高水平医院建设经费深圳市儿童医院临床研究专项(LCYJ2022084)
广东省高水平医院建设财政资金(YNKT2021-ZZ036)。
