河北地区遗传代谢病高危儿筛查结果分析  

Screening Analysis of Inherited Metabolic Diseases in High-risk Children in Hebei Province

作　　者：河北城市多中心高危儿遗传代谢病调查协助组 刘芳[2] 郭莉[2] 孙素真[3] 郑华城[4] 王艳丽[5] 张会丰[6] 陈启梅 贾秀荣 吴永利[8] 娄燕[9] 刘秀珍 LIU Fang;GUO Li;SUN Su-zhen;ZHENG Hua-cheng;WANG Yan-li;ZHANG Hui-feng;CHEN Qi-mei;JIA Xiu-rong;WU Yong-li;LOU Yan;LIU Xiu-zhen(Department of Neonatology,Central Hospital of Handan City,Handan,Hebei 056000,China;Department of Neonatology,980 Hospital of PLA Joint Logistics Support Forces,Shijiazhuang 050082,China;the First Department of Neurology,Children's Hospital of Hebei Province,Shijiazhuang 050030,China;the Second Department of Neurology,Children's Hospital of Hebei Province,Shijiazhuang 050030,China;Department of Neonatology,the Third Hospital of Shijiazhuang,Shijiazhuang 050011,China;Department of Neonatology,the Second Hospital Affiliated to Hebei Provincial Medical University,Shijiazhuang 050000,China;the Fifth Hospital of Zhangjiakou City,Zhangjiakou,Hebei 075000,China;Department of Neonatology,Central Hospital of Cangzhou City,Cangzhou,Hebei 061001,China;Department of Neonatology,People's Hopsital of Hebei Province,Shijiazhuang 050057,China)

机构地区：[1]不详 [10]邯郸中心医院儿科,河北邯郸056000 [2]中国人民解放军联勤保障第九八〇医院新生儿科,石家庄050082 [3]河北省儿童医院神经一科,石家庄050030 [4]河北省儿童医院神经二科,石家庄050030 [5]石家庄市第三医院儿科,石家庄050011 [6]河北医科大学附属第二医院儿科,石家庄050000 [7]张家口市第五医院,河北张家口075000 [8]沧州市中心医院儿科,河北沧州61001 [9]石家庄河北省人民医院儿科,050057

出　　处：《解放军医药杂志》2019年第2期76-80,共5页Medical & Pharmaceutical Journal of Chinese People’s Liberation Army

基　　金：2018河北省科技厅健康医疗与生物医药项目(182777128)

摘　　要：目的分析河北地区遗传代谢病高危儿的疾病谱、发病年龄等特点,为临床遗传代谢病的早期诊断和治疗提供帮助。方法应用串联质谱技术对2014年1月—2016年12月河北地区8家医院就诊的5545例疑似遗传代谢病患儿进行筛查,并对确诊遗传代谢病患儿的病种构成、年龄分布方面进行统计描述。结果本组共确诊遗传代谢病233例,阳性检出率为4. 20%,共17种疾病类型,以有机酸代谢病170例(72. 96%)最常见,其次为氨基酸代谢病45例(19. 31%),脂肪酸β氧化障碍18例(7. 73%)最少见;疾病类型以甲基丙二酸血症(157例)最为常见,占总阳性病例的67. 38%;新生儿期和婴幼儿期发病患儿共200例,占总阳性病例的85. 84%。结论河北地区高危儿的遗传代谢病以有机酸代谢障碍为主,疾病类型以甲基丙二酸血症最为常见,主要在新生儿期和婴幼儿期发病。Objective To analyze characteristics of disease spectrum and onset age of inherited metabolic diseases(IMD)in high risk children in Hebei province in order to provide reference for early diagnosis and treatment.Methods A total of 5545 suspected IMD children,who came from eight hospitals in Hebei province during January 2014 and December 2016,were screened using tandem mass spectrometry(MS/MS)techniques.A statistical description of diseases classification and age distribution was performed in children with positive results.Results There were 233 children with IMD,and the positive detection rate was 4.20%with 17 kinds of diseases.Among them,170 cases(72.96%)with disorder of organic acid metabolism were the most common disease,and 45 cases(19.31%)with aminoacidopathy were followed by,while 18 cases(7.73%)with fatty acidβ-oxidation disorders were the most infrequent disease.The most disease was 157 children with methylmalonic academia,and it proportion to the total positive cases was 67.38%.There were 200 neonatal and infants morbidity,and it proportion to the total positive cases was 85.84%.Conclusion Organic acid dysbolismus is the main inheritted metabolic diseases in high risk children in Hebei province,and methylmalonic academia is the most common type.IMD in hebei province mainly occur during neonatal period and infancy.

关 键 词：代谢病 先天性 高危儿 筛查 串联质谱法 氨基酸代谢病 

分 类 号：R722.11[医药卫生—儿科]