闽东地区135148例新生儿串联质谱筛查分析

Analysis of 135148 Cases of Neonatal Tandem Mass Spectrometry Screening in East Fujian

目的了解闽东地区新生儿遗传代谢病(inherited metabolic disorders,IMD)患病率及疾病谱情况(苯丙酮尿症除外)。方法应用串联质谱技术检测2016年9月—2020年12月闽东地区135148例新生儿滤纸干血片,检测11种氨基酸、游离肉碱和30余种酰基肉碱及比值,进行氨基酸、有机酸、脂肪酸代谢异常疾病筛查,对可疑患儿进行尿有机酸及基因检测。结果135148例新生儿中确诊为新生儿IMD例数为48例,总体患病率为1/2816。共确诊14种遗传代谢病,包括4种氨基酸代谢病11例(1/12286),其中希特林蛋白缺乏症患病率最高(共5例,患病率1/27030);5种有机酸代谢病12例(1/11262),其中2-甲基丁酰辅酶A脱氢酶缺乏症患病率最高(共5例,患病率1/27030);5种脂肪酸代谢病25例(1/5406),其中原发性肉碱缺乏症患病率最高(共16例,患病率1/8447)。结论分析闽东地区新生儿IMD的患病率及疾病谱,对提高本市新生儿出生缺陷防控水平和对新生儿遗传代谢病的早筛、早诊、早治有重要意义。

Objective To understand the prevalence and disease spectrum of neonatal inherited metabolic diseases(IMD)(except phenylketonuria)in east Fujian area.Methods Tandem mass spectrometry was applied to detect 11amino acids,free carnitine and more than 30 acyl carnitines and ratios in 135148 filter paper dried blood slices of newborns from September 2016 to December 2020 in east Fujian.Screening for abnormal amino acid,organic acid and fatty acid metabolism diseases was performed,and urinary organic acid and genetic tests were performed on suspected children.Results Among 135148 neonates,48 were diagnosed with IMD,and the overall prevalence was 1/2816.A total of 14 genetic metabolic diseases were confirmed,including 11 cases(1/12286)of 4 amino acid metabolic diseases,among which the highest prevalence was found in hitrin protein deficiency(5 cases,1/27030);there were 12 cases(1/11262)of 5 kinds of organic acid metabolic diseases,among which 2-methyl-butyryl coA dehydrogenase deficiency was the highest(5 cases,the prevalence rate was 1/27030);there were 25 cases(1/5406)of 5 fatty acid metabolic diseases,among which primary carnitine deficiency was the highest(16 cases,1/8447).Conclusion Analysis of the prevalence and disease spectrum of IMD in neonates in east Fujian is great signifi cance to improve the prevention and control of neonatal birth defects in the city and to provide early screening,diagnosis and treatment of neonatal genetic metabolic diseases.