串联质谱技术在新生儿遗传代谢病筛查中的应用分析  

Application of tandem mass spectrometry in the screening of neonatal inherited metabolic diseases

作　　者：郑国兵[1] 梁睿[1] 唐家彦[2] 王德刚[1] 梁少霞[1] 谢丰华[1] ZHENG Guobing;LIANG Rui;TANG Jiayan;WANG Degang;LIANG Shaoxia;XIE Fenghua(Zhongshan Boai Hospital Prenatal Diagnosis Center,Zhongshan,Guangdong,China,528400;Department of Pediatrics,Boai Hospital,Zhongshan,Guangdong,China,528400)

机构地区：[1]中山市博爱医院产前诊断中心,广东中山528400 [2]中山市博爱医院儿科,广东中山528400

出　　处：《分子诊断与治疗杂志》2021年第11期1809-1812,共4页Journal of Molecular Diagnostics and Therapy

基　　金：中山市社会公益科技研究项目(2018SYF04)。

摘　　要：目的探讨串联质谱技术(MS/MS)在新生儿遗传代谢病(IMD)筛查中的应用。方法选取2018年10月至2020年12月于中山市博爱医院产前中心就诊的新生儿70509例,采用MS/MS技术对其有机酸代谢异常、脂肪酸代谢异常、及氨基酸代谢异常三类疾病进行筛查。结果在接受筛查的70509例新生儿中,住院可疑阳性患儿663例,门诊可疑阳性患儿26例,阳性初筛率为0.98%,最终确诊30例,总发病率为1/2350,其中有机酸代谢异常6例、脂肪酸代谢异常8例、氨基酸代谢异常16例;确诊疾病具体分型为:3羟-3甲基戊二酸尿症(HMG)、异丁酰辅酶脱羟酶A缺乏症(IBDD)、全羟化酶合成酶不足症(HLCS)、鸟氨酸血症(ORN)、I型瓜氨酸血症(CTLN1)各1例,甲基丙二酸血症(MMA)、短酰基辅酶脱羟酶A缺乏症(SCADD3)各3例,高甲基硫酸血症(MIM)4例,原发性肉碱缺乏症(PCD)5例,高丙氨酸血症(HPA)12例。结论运用MS/MS对新生儿遗传代谢性疾病进行筛查,可起到及早发现、诊断、治疗的作用,能显著降低人口出生缺陷。MS/MS具有筛查病种丰富,筛查项目齐全,且筛查时间短的优势。因此MS/MS在筛查新生儿IMD中具有重要运用价值。Objective To explore the application of tandem mass spectrometry(MS/MS)in the screening of neonatal inherited metabolic disease(IMD).Methods A total of 70509 newborns who were treated at the Prenatal Center of Bo.ai hospital in Zhongshan city from October 2018 to December 2020 were selectedgroup.Tandem mass spectrometry(MS/MS)was used to screen three types of diseases:abnormal organic acid metabolism,abnormal fatty acid metabolism and abnormal amino acid metabolism.Results Among the 70509 newborns undergoing screening,663 were suspected positive in hospitalization and 26 in outpatient clinic.The total positive rate of primary screening was 0.98%.The final diagnosis was 30,with a total incidence rate of 1/2350,including 6 cases of organic acid metabolism,8 cases of fatty acid metabolism,and16 cases of abnormal amino acid metabolism.The specific types of diagnosed diseases are:3-hydroxy-3 methylglutaric aciduria(HMG),isobutyryl-coenzyme dehydrolase A deficiency(IBDD),holohydroxylase synthase deficiency(HLCS),ornithine Acidemia(ORN),type I citrullinemia(CTLN1),1 case each,methylmalonic acidemia(MMA),short acyl coenzyme dehydrolase A deficiency(SCADD3),3 cases each,3 cases of methylmalonic acidemia(MMA),3 cases of short acyl coenzyme de hydroxylase a deficiency(scadd3)and 4 cases of hypermethylsulfaemia(MIM),5 cases of primary carnitine deficiency(PCD)and 12 cases of hyperalaninemia(HPA).Conclusion The use of MS/MS to screen newborns for hereditary and metabolic diseases can play a role in early detection,diagnosis,and treatment,and can significantly reduce birth defects in the population.MS/MS has the advantages of abundant screening diseases,complete screening items,and short screening time.Therefore,MS/MS has important application value in the screening of neonatal IMD.

关 键 词：遗传代谢病 串联质谱技术 新生儿 筛查 

分 类 号：R722.1[医药卫生—儿科]