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目的应用液相串联质谱技术对新生儿及高危儿童进行遗传代谢病(IMD)筛查,探讨其应用价值,分析IMD临床特点,为实现早诊断早干预提供依据。方法应用液相串联质谱技术,对我科新生儿2154例及高危儿童11例进行40余种氨基酸、有机酸及脂肪酸等代谢性疾病进行筛查,可疑阳性者召回行尿液、血液的有机酸、氨基酸及基因突变分析,并结合其临床表现进行确诊。结果 2165例患儿中确诊IMD患儿5例,男2例,女3例,检出率为1:433。结论液相串联质谱技术在筛查新生儿及高危儿童IMD检测快速、准确、高通量,可在早期发现IMD患儿,早期进行干预治疗可明显降低患儿死亡率,减轻或避免不可逆的器官损伤,提供遗传咨询。
Objective To screen the genetic metabolic diseases (IMD) of newborns and high-risk children by liquid chromatography-tandem mass spectrometry (MS / MS), discuss the clinical value of IMD, and provide the basis for early diagnosis and early intervention. Methods A total of more than 40 kinds of amino acids, organic acids, fatty acids and other metabolic diseases were screened in 2154 newborns and 11 high risk children by liquid chromatography-tandem mass spectrometry (MS / MS / MS). The suspicious positives were recalled urine and blood organic acids , Amino acid and gene mutation analysis, combined with the clinical manifestations confirmed. Results Among the 2165 children diagnosed with IMD, 5 were found in this study. There were 2 males and 3 females, the detection rate was 1: 433. Conclusion Rapid, accurate and high-throughput detection of IMD in neonates and high-risk children by liquid chromatography-tandem mass spectrometry can detect early IMD in infants. Early intervention can significantly reduce the mortality rate and reduce or avoid irreversible organs Injury, provide genetic counseling.