新生儿有机酸尿症14例临床分析

Clinical Analysis of 14 Cases of Neonatal Organic Aciduria

目的:探讨新生儿有机酸尿症的临床特点。方法:应用气相色谱-质谱联用(GS-MS)有机酸分析方法确诊有机酸尿症新生儿14例,确诊后进行相应饮食和药物治疗,随访1月～1年。结果:确诊为有机酸尿症的14例新生儿中,检出甲基丙二酸尿症8例,丙酸尿症2例,甘油酸尿症2例,高草酸尿症1例,异戊酸尿症1例。结论:新生儿有机酸尿症临床表现复杂,病情变化快。早期诊断和治疗是改善预后的关键。GC-MS是新生儿有机酸尿症筛查和诊断的可靠的方法。

Objective： To investigate the clinical characteristics of neonatal organic aciduria.Methods： Fourteen neonatal patients with organic aciduria were confirmed by organic acid analysis（gas chromatography-mass spectrometry,GC-MS）.After diagnosis,they were treated with individual diet and followed for 1 to 12 months.Results： The age of onset ranged from 1 to 25 days.Among the 14 cases,8 cases were diagnosed as methylmalonic aciduria,2 cases as propionic aciduria,2 cases as glyceric aciduria,1 case as hyperoxali aciduria,and 1 case as isovaleric aciduria,respectively.Conclusions： The clinical manifestations of neonatal organic aciduria are complex and the condition changes quickly.Early diagnosis and treatment is critical to improve the prognosis.GC-MS is a very reliable tool for the screening and diagnosis of neonatal organic aciduia.