游离肉碱初筛阳性新生儿及其母亲的复查结果分析
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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.
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.
引文
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[8]韩田骏,林敏诗,郭勇.孕妇血浆游离肉碱水平与胎儿生长受限的相关性研究[J].广州医药,2014,45(3):13-15.
[9]Vijay S,Patterson A,Olpin S,et al.Carnitine transporter defect diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants[J].J Inherit Metab Dis,2006,29:627-630.
[10]Zheng JL,Luo Z,Zhuo MQ,et al.Dietary L-carnitine supplementation increases lipid deposition in the liver and muscle of fellow catfish(Pelteobagrus fulvidraco)through changes in lipid metabolism[J].Br J Nutr,2014,112:698-708.
[2]Cristina Amat di San Filippo,Matthew R.G.Taylor,Luisa Mestroni,et al.Cardiomyopathy and carnitine deficiency[J].Mol Genet Metab,2008,94(2):162-166.
[3]黄新文,童凡,杨健滨,等.新生儿及母亲原发性肉碱吸收障碍筛查及短期随访观察[J].中华内分泌代谢杂志,2012,28(5):397-401.
[4]田国力,王燕敏,许洪平,等.非衍生化串联质谱技术筛查上海部分地区新生儿遗传代谢病的回顾性分析[J].临床检验杂志,2016,34(12):909-912.
[5]韩连书,叶军,邱文娟,等.原发性肉碱缺乏症17例诊治与随访[J].中华儿科杂志,2012,50(6):405-409.
[6]Magoulas PL,El-Hattab AW.Systemic primary carnitine deficiency:an overview of clinical manifestations,diagnosis,and management[J].Orphanet J Rare Dis,2012,7:68.
[7]陈乔珠,高云鹤.正常孕妇外周血和新生儿脐血肉碱水平及其相关性研究[J].中国妇产科临床杂志,2014,15(6):509-511.
[8]韩田骏,林敏诗,郭勇.孕妇血浆游离肉碱水平与胎儿生长受限的相关性研究[J].广州医药,2014,45(3):13-15.
[9]Vijay S,Patterson A,Olpin S,et al.Carnitine transporter defect diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants[J].J Inherit Metab Dis,2006,29:627-630.
[10]Zheng JL,Luo Z,Zhuo MQ,et al.Dietary L-carnitine supplementation increases lipid deposition in the liver and muscle of fellow catfish(Pelteobagrus fulvidraco)through changes in lipid metabolism[J].Br J Nutr,2014,112:698-708.