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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 investigate the relationship between congenital genetic metabolic diseases and the death of children aged 0-2 years and to explore the feasibility of using in silico mass spectrometry to screen congenital genetic metabolic diseases. Methods One hundred and seventy children aged 0 ~ 2 years old who died in 2011 and 2012 in Beijing were tested for 11 kinds of amino acid metabolism indexes and 13 kinds of fatty acid indexes in the filter paper dried blood collected from newborn by tandem mass spectrometry. 170 cases For 0 ~ 3, 4 ~ 6, 7 ~ 12, 13 ~ 24 months of four groups, analysis of the number of children in each group, birth weight, mothers gestational age and amino acid metabolism and fatty acid metabolism and organic acid metabolism disorders relationship. Results There were 5 cases of abnormal amino acid metabolism index, 7 cases of abnormal fatty acid metabolism index, 4 cases of organic acid metabolism disorder, 16 cases in total, accounting for 9.4% of the analyzed death toll. There were 108 deaths in 0 ~ 3 months group, 9 cases were abnormal, accounting for 56.25% (9/16) of the total number of abnormalities; 26 cases were death in 4 ~ 6 months, 4 cases were abnormal, accounting for 25.0% (4/16) of the total number of abnormalities. There were 26 deaths in 7 ~ 12 months group, 3 cases were abnormal, accounting for 18.75% (3/16) of the total number of abnormalities; 10 cases died in 13 ~ 24 months group and 0 cases were abnormal. Conclusions Congenital genetic metabolic diseases are one of the causes of death in children. Rapid, sensitive and specific tandem mass spectrometry is an effective method to evaluate the abnormalities of congenital hereditary metabolic products.