CAJ | 학술논문

目的对串联质谱技术对新生儿遗传代谢病的筛查以及随访进行分析和研究。方法此次调查研究主要以广东省惠州市惠阳妇幼保健院2012年5月～2013年5月收治的123231例新生儿为对象，采用串联质谱技术对所有新生儿进行遗传代谢病筛查，包括氨基酸代谢异常、有机酸代谢异常以及脂肪酸代谢性异常。并对确诊患儿实施流行病学特点、预后以及随访分析。结果经临床研究结果显示，有24例患儿确诊为新生儿遗传代谢疾病，其中有14例患儿确诊为氨基酸代谢异常，有7例患儿确诊为有机酸代谢异常，有3例患儿确诊为脂肪酸代谢异常。发病率为1∶5135。串联质谱技术的筛查阳性预测值为2.02%，特异性为99.21%，敏感性为100%。所有确诊患儿经过随访调查，结果显示有5例患儿出现运动发育落后、智力发育落后以及代谢紊乱。结论经临床研究结果表明，采用串联质谱技术对新生儿进行遗传代谢病筛查，具有较高的特异性以及敏感性，能够尽早筛查以及诊断，然而阳性预测值不高，还需要深入发展和改进。
목적대천련질보기술대신생인유전대사병적사사이급수방진행분석화연구。방법차차조사연구주요이광동성혜주시혜양부유보건원2012년5월～2013년5월수치적123231례신생인위대상，채용천련질보기술대소유신생인진행유전대사병사사，포괄안기산대사이상、유궤산대사이상이급지방산대사성이상。병대학진환인실시류행병학특점、예후이급수방분석。결과경림상연구결과현시，유24례환인학진위신생인유전대사질병，기중유14례환인학진위안기산대사이상，유7례환인학진위유궤산대사이상，유3례환인학진위지방산대사이상。발병솔위1∶5135。천련질보기술적사사양성예측치위2.02%，특이성위99.21%，민감성위100%。소유학진환인경과수방조사，결과현시유5례환인출현운동발육락후、지력발육락후이급대사문란。결론경림상연구결과표명，채용천련질보기술대신생인진행유전대사병사사，구유교고적특이성이급민감성，능구진조사사이급진단，연이양성예측치불고，환수요심입발전화개진。
Objective For tandem mass spectrometry for newborn genetic metabolic disease screening and follow-up were analyzed and studied.Methods The survey research in our hospital from May 2012 to May 2012, 123231 cases of neonatal as object, and using tandem mass spectrometry technology to all newborn screening for inherited metabolic disease, metabolic abnormalities metabolic abnormalities including amino acids, organic acids and fatty acids in metabolic abnormalities. And for children with confirmed the epidemiological characteristics, prognosis and follow-up analysis.Results Clinical research, according to the results of 24 cases of children with a diagnosis of newborn genetic metabolic diseases, including 14 cases diagnosed with amino acid metabolism, there are 7 cases diagnosed with organic acid metabolic abnormalities, there are 3 cases diagnosed with fatty acid metabolism. Incidence of 1∶5135. Tandem mass spectrometry screening positive predictive value of 2.02%, specificity of 99.21%, the sensitivity was 100%. All children with confirmed through follow-up survey, the result showed 5 cases appeared motor development backward, backward developmental and metabolic disorders.Conclusion The clinical research results show that using tandem mass spectrometry technology to neonatal screening for inherited metabolic disease, and has high specificity and sensitivity, to early screening and diagnosis, the positive predictive value is not high, however, still need further development and improvement.