中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2011年
10期
765-770
,共6页
黄新文%杨建滨%童凡%杨茹莱%毛华庆%周雪莲%黄晓磊%杨莉丽%黄成刚%赵正言
黃新文%楊建濱%童凡%楊茹萊%毛華慶%週雪蓮%黃曉磊%楊莉麗%黃成剛%趙正言
황신문%양건빈%동범%양여래%모화경%주설련%황효뢰%양리려%황성강%조정언
串联质谱技术%遗传代谢病%新生儿筛查%随访
串聯質譜技術%遺傳代謝病%新生兒篩查%隨訪
천련질보기술%유전대사병%신생인사사%수방
Tandem mass spectrometry%Inborn errors of metabolism%Newborn screening%Follow-up
目的 初步了解串联质谱筛查新生儿遗传代谢病的发生率及确诊病例的随访情况.方法 采用串联质谱方法,对129 415例新生儿进行26种氨基酸、有机酸及脂肪酸代谢性疾病筛查,对确诊病例进行流行病学特点、预后及随访情况进行分析.结果 确诊新生儿遗传代谢病23例,包括氨基酸代谢异常13例、有机酸代谢异常6例及脂肪酸代谢异常4例,发病率为1∶5626.筛查的阳性预测值为2.10％,特异性为99.72％,敏感性为100％.所有确诊病例进行随访,仅有6例出现运动、智力发育落后及代谢紊乱.结论 串联质谱方法能够早期筛查、诊断遗传代谢病,及早干预预后较好；串联质谱筛查方法具有较高的特异性及敏感性,但阳性预测值低,需要进一步提高筛查效率.
目的 初步瞭解串聯質譜篩查新生兒遺傳代謝病的髮生率及確診病例的隨訪情況.方法 採用串聯質譜方法,對129 415例新生兒進行26種氨基痠、有機痠及脂肪痠代謝性疾病篩查,對確診病例進行流行病學特點、預後及隨訪情況進行分析.結果 確診新生兒遺傳代謝病23例,包括氨基痠代謝異常13例、有機痠代謝異常6例及脂肪痠代謝異常4例,髮病率為1∶5626.篩查的暘性預測值為2.10％,特異性為99.72％,敏感性為100％.所有確診病例進行隨訪,僅有6例齣現運動、智力髮育落後及代謝紊亂.結論 串聯質譜方法能夠早期篩查、診斷遺傳代謝病,及早榦預預後較好；串聯質譜篩查方法具有較高的特異性及敏感性,但暘性預測值低,需要進一步提高篩查效率.
목적 초보료해천련질보사사신생인유전대사병적발생솔급학진병례적수방정황.방법 채용천련질보방법,대129 415례신생인진행26충안기산、유궤산급지방산대사성질병사사,대학진병례진행류행병학특점、예후급수방정황진행분석.결과 학진신생인유전대사병23례,포괄안기산대사이상13례、유궤산대사이상6례급지방산대사이상4례,발병솔위1∶5626.사사적양성예측치위2.10％,특이성위99.72％,민감성위100％.소유학진병례진행수방,부유6례출현운동、지력발육락후급대사문란.결론 천련질보방법능구조기사사、진단유전대사병,급조간예예후교호；천련질보사사방법구유교고적특이성급민감성,단양성예측치저,수요진일보제고사사효솔.
Objective To determine the impact of expanded newborn screening using tandem mass spectrometry (MS/MS) on the overall detection rate of inborn errors of metabolism in Zhejiang province and to assess the outcome of the patients who were diagnosed.Method Blood spots were collected between days 3 and 6 of life from the newborns.All samples were subjected to MS/MS analysis using Waters Quattro API.Confirmation tests included amino acid analysis,urinary organic acids by GC-MS,routine blood analysis,biochemistry,blood gas analysis,blood glucose and ammonia tests,blood homocysteine,lactate and pyruvate tests,urine acetone tests,biotin and biotin enzyme profile and DNA analysis.Standard treatment protocol was given to the patients.Protein restricted diet,special powdered formula and medicines recommended for the patients with amino acidemias.Protein restricted diet and L-carnitine,folic acid and Vitamin B12 supplementation were given for the patients with organic acidemia.L-carnitine was given to the patients with primary carnitine deficiency.The overall epidemiology,prognosis,follow-up of the screening program were also investigated in the neonates.Result A total of 129 415 neonates were investigated for 26 inborn errors of metabolism during the period.Twenty-three newborns were confirmed as having inborn errors of metabolism,including 13 with amino acidemias,6 with organic acidemias and 4 with fatty acid oxidation disorders.The prevalence was 1 ∶ 5626.Positive predictive value was 2.10％,specificity was 99.72％ and sensitivity 100％.Seventeen children remain asymptomatic during the follow-up.Five patients had motor and mental developmental delay.One patient presented metabolic disorders during the follow-up.No death occurred in this series of patients.Conclusion This strategy represents a valuable preventive medicine approach by enabling diagnosis and treatment before the onset of symptoms.
