CAJ | 학술논문

目的：调查我国部分新生儿筛查实验室串联质谱检测氨基酸和酰基肉碱的水平和现状。方法向19家新生儿筛查实验室发放5个批号(201211、201212、201213、201214、201215)的血斑质控品，收集实验室回报的氨基酸和酰基肉碱检测值，对回报的结果按照方法分组进行统计分析，并评价其检测水平。结果18家实验室回报了检测结果，回报率为94.7%。回报结果的18家实验室中有14家实验室采用衍生非配套的试剂检测氨基酸和酰基肉碱，有3家实验室采用衍生配套的试剂检测氨基酸和酰基肉碱，有1家实验室采用非衍生的方法检测氨基酸和酰基肉碱。按照方法学分组同时考虑是否使用配套试剂计算各组及格率，其中，瓜氨酸项目及格率为71.4%~100.0%，亮氨酸项目的及格率为71.4%~100.0%，甲硫氨酸项目的及格率为42.5%~100.0%，苯丙氨酸项目及格率为71.4%~100.0%，酪氨酸项目及格率为71.4%~100.0%，缬氨酸项目的及格率为66.7%~100.0%，游离肉碱项目的及格率为42.9%~100.0%，丙酰肉碱项目的及格率为28.6%~100.0%，异戊酰肉碱项目的及格率为33.3%~92.9%，辛酰肉碱项目的及格率为28.6%~100.0%，月桂酰肉碱项目的及格率为46.2%~100.0%，棕榈酰肉碱项目的及格率为64.3%~100.0%，十八碳酰肉碱项目的及格率为71.4%~100.0%。结论目前串联质谱检测氨基酸和酰基肉碱的质量水平差异较大，开展室间质评项目计划有利于提高我国遗传代谢病的检测领域整体水平。
목적：조사아국부분신생인사사실험실천련질보검측안기산화선기육감적수평화현상。방법향19가신생인사사실험실발방5개비호(201211、201212、201213、201214、201215)적혈반질공품，수집실험실회보적안기산화선기육감검측치，대회보적결과안조방법분조진행통계분석，병평개기검측수평。결과18가실험실회보료검측결과，회보솔위94.7%。회보결과적18가실험실중유14가실험실채용연생비배투적시제검측안기산화선기육감，유3가실험실채용연생배투적시제검측안기산화선기육감，유1가실험실채용비연생적방법검측안기산화선기육감。안조방법학분조동시고필시부사용배투시제계산각조급격솔，기중，과안산항목급격솔위71.4%~100.0%，량안산항목적급격솔위71.4%~100.0%，갑류안산항목적급격솔위42.5%~100.0%，분병안산항목급격솔위71.4%~100.0%，락안산항목급격솔위71.4%~100.0%，힐안산항목적급격솔위66.7%~100.0%，유리육감항목적급격솔위42.9%~100.0%，병선육감항목적급격솔위28.6%~100.0%，이무선육감항목적급격솔위33.3%~92.9%，신선육감항목적급격솔위28.6%~100.0%，월계선육감항목적급격솔위46.2%~100.0%，종려선육감항목적급격솔위64.3%~100.0%，십팔탄선육감항목적급격솔위71.4%~100.0%。결론목전천련질보검측안기산화선기육감적질량수평차이교대，개전실간질평항목계화유리우제고아국유전대사병적검측영역정체수평。
Objective To investigate the current state of neonatal screening for amino acid and acyl carnitine testing by tandem mass spectrum in China. Methods Five blood spot controls (201211, 201212, 201213, 201214, 201215) were sent to 19 neonatal screening laboratories, each laboratory tested the amino acid and acyl carnitine as required and re-ported results. Based on their results, data were analyzed according to the methods, and testing performance was evalu-ated. Results 18 (94.7%) laboratories reported the results. 14 out of 18 laboratories tested amino acid and acyl carni-tine by derived non-matching reagents, while 3 laboratories by derived matching reagents, 1 laboratory by non-derived method. The acceptance rate was calculated according to the methods and reagent type (matching or non-matching), they were 71.4%-100.0% for citrulline, 71.4%-100.0% for leucine, 42.5%-100.0% for methionine, 71.4%-100.0% for phenylalanine, 71.4%-100.0% for tyrosine, 66.7%-100.0% for valine, 42.9%-100.0% for free-carnitine, 28.6%-100.0%for propionylcarnitine, 33.3%-92.9%for isoamyl acyl carnitine, 28.6%-100.0%for capryloyl carnitine, 46.2%-100.0% for lauroyl carnitine, 64.3%-100.0% for palmitoyl carnitine, 71.4%-100.0% for 18 carbonyl carnitine. Con-clusion The present testing performance for amino acid and acyl carnitine testing by tandem mass spectrum is highly variable. With the help of external quality assessment (EQA) program, total testing performance for inherited metabolic diseases can be improved in our country.