4819例遗传代谢病检测结果分析
Analysis of the clinical measurement on 4819 cases of genetic metabolic diseases
目的 为了解遗传代谢病的发病率,以便推动遗传代谢病的全面筛查,应用液相色谱-串联质谱(liquid chromatography-tandem mass spectrometry,LC-MS/MS)检测血氨基酸和酰基肉碱,联合气相色谱-串联质谱(gas chromatography-tandem mass spectrometry,GC-MS)技术检测尿液中有机酸,对氨基酸、有机酸代谢病及脂肪酸β氧化障碍进行筛查和诊断.方法 收集4819例(包括1388例新生儿及3431例疑似遗传代谢病高危儿童)血氨基酸和酰基肉碱检测结果及尿有机酸检测结果,分别利用LC-MS/MS检测了4778例干滤纸片和GC-MS检测了3004例尿标本.结果 通过遗传代谢病筛查共确诊88例(占所检测样本的1.83%,这88例均行LC-MS/MS和GC-MS检测),其中氨基酸代谢病9种,37例;有机酸代谢病7种,40例;脂肪酸β氧化障碍5种,11例.结论 联合LC-MS/MS及GC-MS能快速对遗传代谢病进行筛查和诊断.
更多Objective To screen and diagnose genetic metabolic diseases (including amino acid diseases, organic academia, fatty acids disorders), amino acids and acylcarnitine were measured with liquid chromatography-tandem mass spectrometry (LC-MS/MS) and organic acids were tested by gas chromatography-tandem mass spectrometry (GC-MS).Methods We collected 4819 samples (including 1388 cases of neonate and 3431 cases of children with high risk of genetic metabolic diseases) and analyzed 4778 LC-MS/MS data of plasma amino acids and acylcarnitine and 3004 GC-MS data of urinary organic acids.Results Eighty-eight cases (1.83%) were diagnosed as genetic metabolic diseases tested with both LC-MS/MS and GC-MS, which include 37 cases with 9 kinds of amino acid diseases, 40 cases with 7 kinds of organic acidemia and 11 cases with 5 kinds of fatty acids disorder, respectively.Conclusion Combination of LC-MS/MS with GC-MS can rapidly screen and diagnose genetic metabolic diseases.
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