【摘要】 目的:分析新生儿重症监护室(neonatal intensive care unit,NICU)中遗传代谢病(或称先天性代谢缺陷,inborn errors of metabolism,IEM)高危新生儿的病因谱及发病特征。方法:联合应用液相色谱-串联质谱(liquid chromatography-tandem mass spectrometry,LC-MS/MS)和气相色谱-质谱(gas chromatography-mass spectrometry,GC-MS)技术,对2007年9月—2012年8月复旦大学附属儿科医院收治的859例IEM高危新生儿进行血尿代谢标志物的检测和分析,并对确诊为IEM患儿的病因和临床表现进行分析。结果:859例IEM高危新生儿中共诊断IEM22例(2.7%),其中氨基酸代谢病11例(50%),以枫糖尿病(7例)多见;有机酸代谢病11例(50%),以甲基丙二酸血症(8例)多见。22例IEM患儿的临床表现各不相同,多在出生后一个短暂的"正常"期后起病,以拒食、呕吐、惊厥发作等消化系统或神经系统症状为主。结论:高危新生儿IEM病因谱复杂多样,以甲基丙二酸血症和枫糖尿病最多见,临床应重视早期联合运用LC-MS/MS和GC-MS技术对NICU中IEM高危新生儿进行IEM检测,以便早期诊断和干预。更多还原

【Abstract】 Objective:To investigate the etiological spectrum and clinical characteristics of neonates with high risk of neonatalonset inborn errors of metabolism(IEM)in neonatal intensive care unit(NICU).Methods:Markers in blood and urine of 859 neonates with high risk of IEM hospitalized in Children’s Hospital of Fudan University from Sep 2007 to Aug 2012 were detected and analyzed by liquid chromatography-tandem mass spectrometry(LC-MS/MS)and gas chromatography-mass spectrometry(GC-MS)method.Etiological spectrum and clinical manifestations were analyzed in neonates confirmed with IEM.Results: In the 859 neonates,a total of 22 cases(2.7%)were diagnosed with IEM.Among the 22 cases,11 cases(50%)were suffered from amino acid metabolic diseases,in which maple syrup urine disease(7 cases)was the most common.The other 11 cases(50%)were diagnosed with organic acid metabolic diseases,in which methylmalonic acidemia(8 cases)was the most common.Their clinical manifestations varied from apastia,vomitting to convulsion,and were mainly digestive system or nervous system symptoms followed by a short‘normal’period after birth.Conclusions:The neonates with high risk of IEM have complicated etiologies,and methylmalonic acidemia and maple syrup urine disease are the most common diseases.Pediatricians should recognize the importance of early utilization of combination of LC-MS/MS and GC-MS in detection of IEM for high risk neonates in NICU and thus achieve early diagnosis and invention.更多还原