四川地区早产儿干血斑中氨基酸切值的探讨  

Exploration of cut-off values of amino acid levels in premature infants in Sichuan

作　　者：周婧瑶[1] 欧明才[1] 罗晓菊[2] 苏星月 张钰[1] 胡琦[1] 陈雪莲[1] 杨丽涓 杨云霞[1] Zhou Jingyao;Ou Mingcai;Luo Xiaoju;Su Xingyue;Zhang Yu;Hu Qi;Chen Xuelian;Yang Lijuan;Yang Yunxia(Department of Neonatal Disease Screening,Sichuan Provincial Maternity and Child Health Care Hospital,Chengdu 610045,China;Department of Obstetrics,Sichuan Provincial Maternity and Child Health Care Hospital,Chengdu 610045,China)

机构地区：[1]四川省妇幼保健院新生儿疾病筛查科,成都610045 [2]四川省妇幼保健院产科,成都610045

出　　处：《中华实用儿科临床杂志》2022年第5期362-365,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家重点研发计划(2017YFC1001703)。

摘　　要：目的探讨四川地区早产儿干血斑中氨基酸含量的切值。方法回顾性分析2018年1月至2019年12月在四川地区采用串联质谱技术进行遗传代谢病(IMD)筛查的新生儿临床数据。根据胎龄分为2组:早产儿组2264例(男1312例,女952例),足月儿组53275例(男28269例,女25006例),干血斑中氨基酸切值采用百分位数法(P_(0.5)~P_(99.5))表示,组间比较采用秩和检验。结果1.早产儿干血片内11种氨基酸[丙氨酸(ALA)、精氨酸(ARG)、瓜氨酸(CIT)、甘氨酸(GLY)、亮氨酸(LEU)、蛋氨酸(MET)、鸟氨酸(ORN)、苯丙氨酸(PHE)、脯氨酸(PRO)、酪氨酸(TYR)、缬氨酸(VAL)]均呈非正态分布。2.早产儿IMD检测指标参考区间:ALA为114.76~545.48μmol/L、ARG为1.34~47.04μmol/L、CIT为5.66~32.02μmol/L、GLY为181.48~909.93μmol/L、LEU为71.10~283.29μmol/L、MET为4.21~34.51μmol/L、ORN为40.58~293.76μmol/L、PHE为23.60~106.30μmol/L、PRO为77.76~358.24μmol/L、TYR为27.52~352.91μmol/L、VAL为53.74~228.37μmol/L。3.足月儿IMD检测指标参考区间:ALA为135.20~552.33μmol/L、ARG为1.30~42.73μmol/L、CIT为5.92~30.35μmol/L、GLY为208.17~980.09μmol/L、LEU为72.91~287.49μmol/L、MET为4.27~33.90μmol/L、ORN为48.40~305.59μmol/L、PHE为27.63~92.27μmol/L、PRO为97.38~372.75μmol/L、TYR为40.19~276.54μmol/L、VAL为65.75~237.92μmol/L。4.除PHE(Z=-0.58,P>0.05)早产儿与足月儿差异无统计学意义外,2组间ALA(Z=-15.32,P<0.05)、ARG(Z=-5.62,P<0.05)、CIT(Z=-5.86,P<0.05)、GLY(Z=-14.52,P<0.05)、LEU(Z=-5.62,P<0.05)、MET(Z=-5.22,P<0.05)、ORN(Z=-13.01,P<0.05)、PRO(Z=-22.09,P<0.05)、TRY(Z=-2.09,P<0.05)、VAL(Z=-17.82,P<0.05)等指标差异均有统计学意义。结论四川地区早产儿氨基酸参考区间的建立可为IMD实验室筛查提供参考依据,减少误判风险,使疾病诊断趋于精准。Objective To detective the cut-off values of amino acid levels in premature infants in Sichuan.Methods Data of newborns screening for inherited metabolic diseases(IMD)by tandem mass spectrometry in Sichuan Province from January 2018 to December 2019 were retrospectively analyzed.They were divided into premature infant group(n=2264,1312 males and 952 females)and full-term infant group(n=53275,28269 males and 25006 females).The cut-off values of amino acids in dry blood spots were expressed as percentage(P_(0.5)-P_(99.5)),and rank sum test was used for comparison between preterm and full-term infants.Results(1)The distribution of 11 amino acids[alanine(ALA),arginine(ARG),citrulline(CIT),glycine(GLY),leucine(LEU),methionine(MET),ornithine(ORN),phenylalanine(PHE),proline(PRO),tyrosine(TYR)and valine(VAL)]in premature infants were abnormal.(2)The cut-off values of amino acids in premature infants were as follows:ALA:135.20-552.33μmol/L,ARG:1.34-47.04μmol/L,CIT:5.66-32.02μmol/L,GLY:181.48-909.93μmol/L,LEU:71.10-283.29μmol/L,MET:4.21-34.51μmol/L,ORN:40.58-293.76μmol/L,PHE:23.60-106.30μmol/L,PRO:77.76-358.24μmol/L,TYR:27.52-352.91μmol/L,VAL:53.74-228.37μmol/L.(3)The cut-off values of amino acid in full-term infants were as follows:ALA:135.20-552.33μmol/L,ARG:1.30-42.73μmol/L,CIT:5.92-30.35μmol/L,GLY:208.17-980.09μmol/L,LEU:72.91-287.49μmol/L,MET:4.27-33.90μmol/L,ORN:48.40-305.59μmol/L,PHE:27.63-92.27μmol/L,PRO:97.38-372.75μmol/L,TYR:40.19-276.54μmol/L,VAL:65.75-237.92μmol/L.(4)Except for PHE(Z=-0.58,P>0.05),the other indicators were significantly different between 2 groups[ALA(Z=-15.32,P<0.05),ARG(Z=-5.62,P<0.05),CIT(Z=-5.86,P<0.05),GLY(Z=-14.52,P<0.05),LEU(Z=-5.62,P<0.05),MET(Z=-5.22,P<0.05),ORN(Z=-13.01,P<0.05),PRO(Z=-22.09,P<0.05),TRY(Z=-2.09,P<0.05),VAL(Z=-17.82,P<0.05)].Conclusions The establishment of the cut-off values of amino acids in premature infants in Sichuan provides a theoretical basis for laboratory diagnosis of IMD screening,which enhances the accuracy of diagnosis and avoids excess

关 键 词：新生儿筛查 串联质谱 氨基酸 婴儿 早产 切值 

分 类 号：R722.6[医药卫生—儿科]