中外医学研究
中外醫學研究
중외의학연구
CHINESE AND FOREIGN MEDICAL RESEARCH
2015年
2期
139-140
,共2页
遗传代谢性疾病%新生儿%串联质谱技术%筛查
遺傳代謝性疾病%新生兒%串聯質譜技術%篩查
유전대사성질병%신생인%천련질보기술%사사
Genetic metabolic diseases%Newborns%Tandem mass spectrometry%Screening
目的：探讨串联质谱技术对于新生儿遗传代谢性疾病的筛查价值。方法：选取2010年11月-2013年1月惠州市惠阳区的新生儿32252例作为研究对象，采用串联质谱技术进行遗传代谢病筛查，并对确诊病例的病学特点、临床预后进行随访分析。结果：串联质谱技术共筛查出270例为阳性，其中11例确诊为新生儿遗传代谢性疾病，确诊率为4.07%。其中，6例氨基酸代谢异常，3例有机酸代谢异常，2例脂肪酸代谢异常，诊治率为100%。结论：串联质谱技术对于新生儿遗传代谢性疾病的筛查具有较高的敏感性与特异性，有利于遗传代谢性疾病的早期筛查和诊断。
目的：探討串聯質譜技術對于新生兒遺傳代謝性疾病的篩查價值。方法：選取2010年11月-2013年1月惠州市惠暘區的新生兒32252例作為研究對象，採用串聯質譜技術進行遺傳代謝病篩查，併對確診病例的病學特點、臨床預後進行隨訪分析。結果：串聯質譜技術共篩查齣270例為暘性，其中11例確診為新生兒遺傳代謝性疾病，確診率為4.07%。其中，6例氨基痠代謝異常，3例有機痠代謝異常，2例脂肪痠代謝異常，診治率為100%。結論：串聯質譜技術對于新生兒遺傳代謝性疾病的篩查具有較高的敏感性與特異性，有利于遺傳代謝性疾病的早期篩查和診斷。
목적：탐토천련질보기술대우신생인유전대사성질병적사사개치。방법：선취2010년11월-2013년1월혜주시혜양구적신생인32252례작위연구대상，채용천련질보기술진행유전대사병사사，병대학진병례적병학특점、림상예후진행수방분석。결과：천련질보기술공사사출270례위양성，기중11례학진위신생인유전대사성질병，학진솔위4.07%。기중，6례안기산대사이상，3례유궤산대사이상，2례지방산대사이상，진치솔위100%。결론：천련질보기술대우신생인유전대사성질병적사사구유교고적민감성여특이성，유리우유전대사성질병적조기사사화진단。
Objective:To investigate the screening value of tandem mass spectrometry in neonatal screening for genetic metabolic diseases.Method:32 252 newborns of Huiyang district in Huizhou city from November 2010 to January 2013 were selected as the research objects,all newborns received genetic screening for metabolic diseases by tandem mass spectrometry,and the disease characteristics,clinical outcomes of the confirmed cases were followed up and analyzed.Result:A total of tandem mass spectrometry screening of 270 cases were positive,including 11 cases diagnosed as neonatal genetic metabolic diseases, the diagnosis rate was 4.07%.Among them,6 cases of amino acid metabolism,organic acid metabolism in 3 cases,fatty acid metabolism in 2 cases,the rate of the diagnosis and treatment was 100%.Conclusion:Tandem mass spectrometry for newborn screening for inherited metabolic diseases with high sensitivity and specificity,it is conducive to early screening and diagnosis for the inherited metabolic diseases.
