游离肉碱初筛阳性新生儿及其母亲的复查结果分析  

Analysis of reexamination results of mothers and neonates with positive free carnitine screening

作　　者：刘伟[1] 马志军[1] 万智慧[1] 芦丽红[1] 简永健[1] LIU Wei;MA Zhi-jun;WAN Zhi-hui;LU Li-hong;JIAN Yong-jian(Department of Clinical Laboratory, Beijing Obstetrics and Gynecology Hospitals Capital Medical University Beijing,100026 China)

机构地区：[1]首都医科大学附属北京妇产医院检验科新筛室

出　　处：《中国优生与遗传杂志》2019年第6期721-722,732,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过分析游离肉碱初筛阳性儿和母亲体内肉碱水平,为诊断原发性肉碱缺乏症提供依据。方法对初筛游离肉碱减低的92例新生儿及其母亲予以召回,一起再进行串联质谱检测,并选取同期92例健康查体儿的质谱结果作为对照分析。结果游离肉碱减低的母亲组有3例,乙酰肉碱减低的母亲组和初筛阳性儿组均有22例,确诊1例母亲原发性肉碱缺乏症,新生儿未有确诊。初筛阳性儿组、母亲组和健康查体儿组的整体肉碱水平分别为C0(22.97±6.66)μmol/L,C2(9.21±2.84)μmol/L;C0(19.36±6.62)μmol/L,C2(9.98±3.92)μmol/L;C0(33.58±11.76)μmol/L,C2(14.02±6.61)μmol/L。初筛阳性儿组及母亲组的游离肉碱和乙酰肉碱水平均明显低于健康查体儿组(P值均=0.000,<0.05)。结论同时检测母亲肉碱水平可为新生儿是否确诊原发性肉碱缺乏症提供依据,并可检测出成人母亲患者,新生儿初筛阳性需进行母亲肉碱的测定。Objective:To provide a basis for the diagnosis of primary carnitine deficiency(PCD)by analyzing carnitine levels in neonates and mothers with positive free carnitine(C0)screening. Methods:92 neonates and their mothers with reduced C0 screening were recalled to detect by tandem mass spectrometry,and 92 results of healthy neonates in the same period were selected as control analysis. Results:The mothers group had 3 cases with reduced C0,and there were 22 cases with reduced acetylcarnitine(C2)in both the mother group and screening positive neonates group. In additiong,one case of PCD in mothers group was confirmed. The carnitine levels in screening positive neonates,mothers and healthy neonatels were respectively C0(22.97±6.66)μmol/L,C2(9.21±2.84)μmol/L;C0(19.36±6.62)μmol/L,C2(9.98±3.92)μmol/L;C0(33.58±11.76)μmol/L,C2(14.02±6.61)μmol/L.The mean level of C0 and C2 in screening positive neonates and mothers were significantly lower than that in healthy neonates(P=0.000,<0.05). Conclusion:Simultaneous detection of carnitine levels in the mother can provide a basis for the diagnosis of PCD,and adult maternal patients can be detected.

关 键 词：游离肉碱 乙酰肉碱 原发性肉碱缺乏症 新生儿 母亲 

分 类 号：R722.1[医药卫生—儿科]