目的 运用串联质谱技术(MS/MS)检测柳州地区临床高危儿氨基酸及酰基肉碱水平,了解本地区临床高危患儿群体遗传代谢疾病的发生情况。方法 选取2013年1月-2015年12月本院住院及门诊高危患儿共2 215例,串联质谱分别检测其氨基酸及肉碱水平。初筛阳性患儿结合临床表型,进一步经不同确诊手段检测分析后,确定确诊病例,并进行随访治疗。结果 在2 215例高危儿的检测结果中,初筛阳性为195例,占8.80%;确诊例数为30例为1.35%。确诊遗传代谢病14种共计30例患儿,其中疾病种类以肉碱缺乏症、希特林蛋白血症、戊二酸血症Ⅰ型为主,其余类型病种均有出现。结论 在广西柳州地区高危儿群体,遗传代谢疾病的比例及病种均有一定发生率,在高危儿遗传代谢疾病的诊疗过程中,运用串联质谱技术可以针对该群体进行早期筛查与疾病预防。
Abstract
Objective To detect the level of amino acids and acyl carnitine in Liuzhou area by tandem mass spectrometry (MS/MS),and to understand the occurrence of genetic metabolic disease in children with high risk. Methods A total of 2 215 patients with high risk of hospitalization and outpatient service from January 2013 to December 2015 were selected,and their amino acids and carnitine levels were detected by tandem mass spectrometry.Screening positive children combined with clinical phenotype,further diagnosis was conducted by means of different detection analysis to determine the confirmed cases and follow-up treatment. Results In the 2 215 cases of high-risk infants,screening positive was 195 cases,accounting for 8.80%;the number of confirmed cases was 30(1.35%).Diagnosis of genetic metabolic disease in 14 of 30 children,of which the disease types of carnitine deficiency,Hitlin protein,and the main types of E-acid,and other types of diseases have emerged. Conclusion In the area of Liuzhou,inherited metabolic disease percentage and disease have certain incidence of Guangxi high risk infants,in the process of diagnosis and treatment of genetic in metabolic diseases high-risk infants,tandem mass spectrometry can be used as early screening and prevention in the community.
关键词
串联质谱 /
高危儿 /
氨基酸 /
酰基肉碱
Key words
tandem mass spectrometry /
high risk infants /
amino acids /
acyl carnitine
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