摘要
目的探讨先天性糖基化障碍(CDG)的临床及遗传学特征。方法回顾分析8例CDG患儿的临床资料。结果8例确诊CDG患儿共4种亚型,包括PMM2-CDG 5例(男2例、女3例),ALG6-CDG、SSR4-CDG、SLC35A2-CDG型各1例(均为男性);平均起病年龄(5.6±1.8)月,平均就诊年龄(18.5±4.4)月,平均确诊时长(10.5±5.5)月。神经系统最易受累,均以中、重度发育迟缓为主要或首发症状,均存在肌张力障碍,有特征性的骨盆上方和/或臀部脂肪垫及乳头凹陷,头颅影像学多无特征性异常。ALG6-CDG及SSR4-CDG病例系国内首次报道。错义变异为CDG主要变异类型,共6个位点为HGMD数据库尚未报道过的突变位点。结论CDG是一类涉及多个基因、多个变异位点的疾病,临床表型及基因型异质性强,早期诊断困难。
Objective To review and summarize the clinical and genetic characteristics of congenital disorders of glycosylation(CDG),and to help its early diagnosis and treatment.Methods To analyze retrospectively clinical characteristics,genotypes,family information,imaging and electrophysiological examinations,laboratory indicators and other related data of eight children with CDG diagnosed in our department in recent years.Results There were four subtypes in eight children with CDG,including five cases of PMM2-CDG(two males and three females),one case of ALG6-CDG(male),one case of SSR 4-CDG(male),and one case of SLC35A2-CDG(male).The average age of onset was 5.6±1.8 months,the average age of consultation is 18.5±4.4 months,and the average duration of diagnosis was 10.5±5.5 months.The nervous system were the most susceptible to be involved in CDG children,presented with moderate to severe developmental delay as the main or initial symptom.Dystonia was presented in all children,and characteristic upper pelvic and(or)buttocks fat pad and nipple depression were common phenotype.There were no characteristic abnormalities in brain imaging.PMM 2-CDG was the most common CDG subtype,and the cases of ALG6-CDG and SSR4-CDG were reported for the first time in China.Missense mutation was the main type of CDG mutation.There were 6 sites in the article which have not been reported in the HGMD database.Conclusion CDG is a type of disease involving multiple genes and multiple site mutations.Therefore,the clinical phenotype and genotype are diverse,and early identification and diagnosis are difficult.
作者
张思思
江伟
王献虎
张明强
肖农
ZHANG Sisi;JIANG Wei;WANG Xianhu;ZHANG Mingqiang;XIAO Nong(Department of Children Rehabilitation,Children’s Hospital of Chongqing Medical University/Ministry of Education Key Laboratory of Child Development and Disorders/National Clinical Research Center for Child Health and Disorders/China International Science and Technology Cooperation Base of Child Development and Critical Disorders/Chongqing Key Laboratory of Pediatrics,Chongqing,400014,China;Department of Pediatrics,Hanzhong Central Hospital,Shaanxi Province,Hanzhong 723000,Shaanxi,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2021年第11期805-808,共4页
Journal of Clinical Pediatrics
基金
重庆市技术创新与应用发展专项面上项目(No.cstc2019jscx-msxmX0197)。
