串联质谱技术对新生儿遗传代谢病的筛查及随访研究  

Screening for neonatal inborn errors of metabolism by electrospray ionization-tandem mass spectrometry and follow-up

作　　者：黄新文[1] 杨建滨[1] 童凡[1] 杨茹莱[1] 毛华庆[1] 周雪莲[1] 黄晓磊[1] 杨莉丽[1] 黄成刚[1] 赵正言[1] 

机构地区：[1]浙江大学医学院附属儿童医院遗传代谢科,杭州市310003

出　　处：《中华儿科杂志》2011年第10期765-770,共6页Chinese Journal of Pediatrics

摘　　要：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129415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。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 pyrnvate 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.

关 键 词：串联质谱技术 遗传代谢病 新生儿筛查 随访 

分 类 号：R722.1[医药卫生—儿科]