非衍生化串联质谱技术分析0～2岁儿童死亡与先天性遗传代谢性疾病的关系

Relationship between deaths and congenital genetic metabolic diseases in 0～2 years old children by using of non-derivative tandem mass spectrometry

目的探讨先天性遗传代谢性疾病与0～2岁儿童死亡的关系和串联质谱技术筛查先天性遗传代谢性疾病的可行性。方法对170例北京市2011年和2012年死亡的0～2岁儿童用串联质谱技术检测其新生儿期采集的滤纸干血片中11种氨基酸代谢指标和13种脂肪酸指标水平,将170例分为0～3、4～6、7～12、13～24月四组,分析每组的儿童死亡人数、出生体重、母亲孕周与氨基酸代谢水平和脂肪酸代谢水平及有机酸代谢障碍之间的关系。结果 170例死亡儿童中有氨基酸代谢指标异常5例,脂肪酸代谢指标异常7例,有机酸代谢障碍4例,共16例,占分析死亡人数的9.4%。0～3月组死亡108例,异常9例,占异常总数的56.25%(9/16);4～6月组死亡26例,异常4例,占异常总数的25.0%(4/16);7～12月组死亡26例,异常3例,占异常总数的18.75%(3/16);13～24月组死亡10例,异常0例。结论先天性遗传代谢性疾病是造成儿童死亡的原因之一,快速、灵敏、特异的串联质谱技术是早期评价先天性遗传代谢性产物异常的有效方法。

Objective To explore the relationships between congenital genetic metabolic disease with unknown cause death of 0- 2 years old children and tandem mass spectrometry technology feasibility of screening for congenital genetic metabolic diseases. Methods The level of 11 kinds of amino acid metabolism and 13 kinds of fatty acid indicators were de- tected in 170 cases of 042 years old deaths children with tandem mass spectrometry,170 patients specimens of Beijing area from 2011 to 2012 were divided into 043,4-6,7-12,13-24 months groups,and analysed the relationship between birth weight,gestational, amino acid metabolism, fatty acid metabolism and the organic acid metabolism disorder in each group. Results In a total of 170 cases,children with amino acid metabolism abnormalities were 5 cases,fatty acid metabolism ab- normalities were 16 cases,accounting for 9.4% of deaths. 108 cases died in 0-3 months group with 9 cases of abnormal,ac- counting for 56.25% of total abnormalities （9/16）;26 cases died in 4-6 group with abnormal in 4 cases,accounting for 25.0% of the total number of anomalies （4/16）;26 cases died in 7 -9 group with 3 cases of abnormal, accounting for 18.75% of the total number of anomalies （3/16）;10 patients died in 13424 months group and found no abnormalities. Conclusion Congenital genetic metabolic diseases is the causes of children death, rapid, sensitive and specific technology of tandem mass spectrometry is an effective method to early assess products of congenital abnormal genetic metabolic.