气相色谱-质谱技术检测3377例疑似遗传代谢病患儿的结果分析  

Gas chromatography-mass spectrometry for detecting 3 377 patients with suspected inherited metabolic disorders

作　　者：刘浩[1] 苗静琨[1] 余朝文[1] 万科星 张娟[1] 袁召建[1] 杨静[1] 王冬娟[1] 邹琳[1] Liu Hao;Miao Jingkun;Yu Chaowen;Wan Kexing;Zhang Juan;Yuan Zhaojian;Yang Jing;Wang Dongjuan;Zou Lin(Center for Clinical Molecular Medicine,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)

机构地区：[1]重庆医科大学附属儿童医院临床分子医学中心、儿童发育疾病研究教育部重点实验室、国家儿童健康与疾病临床医学研究中心、儿童发育重大疾病国家国际科技合作基地、儿科学重庆市重点实验室,重庆400014

出　　处：《重庆医科大学学报》2020年第12期1734-1738,共5页Journal of Chongqing Medical University

摘　　要：目的:应用气相色谱质谱技术(gas chromatography-mass spectrometry,GC-MS)对疑似遗传代谢病(inherited metabolic disorders,IMDs)患儿进行检测分析,初步探讨遗传代谢病在重庆地区的发病情况。方法:采用GC-MS对重庆医科大学附属儿童医院2016年5月至2018年5月间的3377例疑似IMDs患儿进行尿有机酸分析,通过尿有机酸检测结果,并结合患儿临床表现、串联质谱及基因结果进行疾病诊断;通过查阅既往病史或电话访问患儿家属获得患儿的发病年龄并进行统计。结果:检出并确诊阳性患儿69例,共20种IMDs,阳性检出率2.04%。其中,氨基酸代谢病30例,以新生儿肝内胆汁淤积症(neonatal intrahepatic cholestasis caused by citrin deficiency,NICCD)最常见(17,56.7%),其次为鸟氨酸氨甲酰基转移酶缺乏症(ornithine transcarbamylase deficiency,OTCD)(9,30%);有机酸代谢病26例,以甲基丙二酸血症(methylmalonic acidemia,MMA)最常见(13,46.4%),其次为戊二酸血症I型(glutaric acidemia type I,GA-I)(4,14.3%)及丙酸血症(propionic acidemia,PA)(3,10.7%);脂肪酸代谢病11例,以多种酰基辅酶A缺乏症(multiple acyl-CoA dehydrogenase deficiency,MADD)最常见(4,36.4%)。在6种常见IMDs中,除7例MMA及1例NICCD、1例GA-I、1例PA患儿的发病年龄在出生后1个月内,其余40例患儿的发病年龄均超过1个月。结论:IMDs并不少见,NICCD、OTC、MMA、GA-I、PA及MADD是重庆地区最常见的遗传代谢病,以新生儿期后起病的患者更多见。Objective:To detect the inherited metabolic disorders(IMDs)by gas chromatography-mass spectrometry(GC-MS)and to preliminarily investigate the prevalence of IMDs in Chongqing.Methods:A total of 3377 patients with suspected IMDs in our hospital from May 2016 to May 2018 were underwent the urine organic acid analysis via GC-MS.According to the detecting results and combining with patients’clinical manifestation,liquid chromatography tandem mass spectrometry(LC-MS/MS)and gene analysis to diagnose the disease;patients’onset age was obtained by looking through medical history or telephoning their parents.Results:There were 69 patients diagnosed as positive and 20 kinds of IMDs,with a positive detection rate of 2.04%.Among all disorders,there were 30 patients with aminoacidopathy,with the most common one of neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD)(17,56.7%)and followed by ornithine transcarbamylase deficiency(OTCD)(9,30%).There were 26 patients with organic acidemias,with the most common one of methylmalonic acidemia(MMA)(13,46.4%),followed by glutaric acidemia typeⅠ(GA-Ⅰ)(4,14.3%)and propionic acidemia(PA)(3,10.7%).There were 11 patients with fatty acid metabolic disease,with the most common one of multiple acyl-CoA dehydrogenase deficiency(MADD)(4,36.4%).Among the six common disorders,40 patients’onset age was more than one month,except seven patients with MMA,one patient with NICCD,one patient with GA-I and patient with PA.Conclusion:IMDs are not rare,and NICCD,OTCD,MMA,GA-I,PA and MADD are the common disorders in Chongqing,which occurs more frequently in the late neonatal period.

关 键 词：遗传代谢病 气相色谱-质谱 尿有机酸 儿童 

分 类 号：R.72[医药卫生]