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目的了解山东省鲁中地区新生儿体内氨基酸水平变化特点,为临床判读提供帮助。方法利用串联质谱技术非衍生法对在鲁中地区出生且自愿接受筛查的新生儿47 916例进行新生儿遗传代谢病筛查,剔除确诊阳性病例33例,入选样本47 883例,根据胎龄、出生体重、采血时间、季节进行分组。结果早产儿较足月儿除丙氨酸、蛋氨酸之外体内各种氨基酸指标差异有统计学意义(P<0.01),低体重较正常体重的除瓜氨酸、蛋氨酸、鸟氨酸之外体内各种氨基酸指标差异有统计学意义(P<0.01),采血日龄3~7 d较>7 d的除脯氨酸之外体内各种氨基酸指标差异有统计学意义(P<0.01),新生儿出生四季间各种氨基酸比较指标差异有统计学意义(P<0.01)。结论在应用串联质谱技术进行新生儿遗传代谢病筛查结果判读时应根据胎龄、出生体重、采血日龄、出生季节的不同选择适宜的参考值范围。
Objective To understand the changes of amino acids in newborns in Shandong province and to provide help for clinical interpretation. Methods A total of 47 916 newborns born in the middle part of Luzhong area were screened for genetic metabolic diseases by non-derivatization method using tandem mass spectrometry. 33 cases of positive diagnoses were excluded and 47 883 were selected according to gestational age , Birth weight, blood sampling time, season grouping. Results Compared with full-term children, preterm infants showed significant differences in various amino acid indices except alanine and methionine (P <0.01), lower body weight than normal citrulline, methionine and ornithine There were significant differences among various amino acid indexes (P <0.01), the amino acid indexes of all kinds of amino acids in addition to proline on the 3rd to 7th day and the> 7th day after blood collection were statistically significant (P <0.01) There were significant differences in the indexes of various amino acids in the four seasons of children born (P <0.01). Conclusions When using tandem mass spectrometry to screen the screening results of neonatal genetic metabolic diseases, the appropriate reference value range should be selected according to the different gestational age, birth weight, blood sampling day and birth season.