潍坊地区新生儿遗传代谢病串联质谱筛查结果分析  

Analysis of screening results of tandem mass spectrometry for neonatal genetic metabolic diseases in Weifang region

作　　者：裴薇[1] 鹿相花[1] 田维兵[1] 张兰香[1] 张雪飞 PEI Wei;LU Xianghua;TIAN Weibing;ZHANG Lanxiang;ZHANG Xuefei(Weifang Maternal and Child Health Hospital,Weifang Infant Disease Screening Center,Weifang 261011,China)

机构地区：[1]潍坊市妇幼保健院,潍坊市新生儿疾病筛查中心,山东潍坊261011

出　　处：《中国中西医结合儿科学》2018年第5期452-455,共4页Chinese Pediatrics of Integrated Traditional and Western Medicine

摘　　要：目的探讨串联质谱技术在新生儿遗传代谢病筛查中的意义,初步了解潍坊地区新生儿遗传代谢病的发病率及病种分布情况。方法对2013年6月至2016年4月潍坊地区出生的77 974例活产新生儿,应用串联质谱技术进行遗传代谢病筛查,并对初筛可疑阳性病例进行串联质谱、尿气相质谱检测和基因分析。结果共筛查新生儿77 974例,其中可疑阳性1 721例,确诊病例32例,总发病率1/2 437,包括甲基丙二酸血症12例、高苯丙氨酸血症10例、高脯氨酸血症3例、原发性肉碱缺乏症3例,以及戊二酸血症Ⅰ型、3-甲基巴豆酰甘氨酸尿症、肉碱棕榈酰转移酶Ⅱ缺乏症、短链酰基辅酶A脱氢酶缺乏症各1例。结论潍坊地区发病率偏高,可能是遗传代谢病的高发区。应用串联质谱技术进行新生儿疾病筛查,有利于新生儿遗传代谢病的早期发现及诊治,有效保障儿童健康,提高出生人口素质。Objective To explore the significance of tandem mass spectrometry in screening for neonatal genetic and metabolic diseases,and to learn about the incidence and distribution of neonatal genetic metabolic diseases in Weifang.Methods Totally 77 974 neonates from Weifang were,screened by tandem mass spectrometry from June 2013 to April 2016.Suspected positive samples were clarified by tandem mass spectrometry,urine gas chromatography/mass spectrometry and gene analysis.Results Among the 77 974 neonates,1 721 were suspected to be positive,and 32 cases were diagnosed with genetic metabolic diseases the incidence being 1/2 437.There were 12 cases of methylmalonic acidemia,10 cases of hyperphenylalaninemia,3 cases of hyperprolinemia,3 cases of primary carnitine deficiency,1 case of glutaric acidemia I,1 case of 3-methylcrotine glucosinuria,1 case of carnitine palmitoyltransferaseⅡdeficiency and 1 case of short-chain acyl-CoA dehydrogenase deficiency.Conclusion The incidence is high in Weifang area,which may be the high incidence area of genetic metabolic diseases.Screening for neonatal diseases by tandem mass spectrometry is beneficial to the early detection,diagnosis and treatment of neonatal genetic and metabolic diseases,effectively safeguarding children's health and improving the quality of the population.

关 键 词：遗传代谢病 串联质谱 新生儿筛查 

分 类 号：R725.8[医药卫生—儿科]