广西地区不同胎龄早产儿氨基酸和肉碱切值的建立  

Establishment of amino acid and carnitine cut-off values for preterm infants of different gestational ages in Guangxi

作　　者：林彩娟[1] 耿国兴[1] 黄小桃 吴柳霖 徐钰琪 李威[1] 钱家乐[1] 罗静思[1] LIN Cai-juan;GENG Guo-xing;HUANG Xiao-tao;WU Liu-lin;XU Yu-qi;LI Wei;QIAN Jia-le;LUO Jing-si(Genetic Metabolism Center Laboratory,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region,Birth Defects Prevention and Control Institute of Guangxi Zhuang Autonomous Region,Guangxi Key Laboratory of Reproductive Health and Birth Defect Prevention,Guangxi Newborn Disease Screening Center,Nanning 530012,Guangxi,China)

机构地区：[1]广西壮族自治区妇幼保健院(广西出生缺陷预防控制研究所)遗传代谢中心实验室、广西生殖健康与出生缺陷防治重点实验室、广西新生儿疾病筛查中心,广西南宁530012

出　　处：《广东医学》2022年第11期1321-1326,共6页Guangdong Medical Journal

基　　金：广西壮族自治区卫生健康委员会自筹经费科研课题(Z20200684);广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z2015234);国家重点研发计划(2017YFC1001703)。

摘　　要：目的对不同胎龄早产儿和足月儿干血斑中氨基酸和肉碱水平进行分析比较,初步建立广西地区不同胎龄早产儿切值。方法回顾性分析2019—2021年于广西新生儿疾病筛查中心筛查片区进行遗传代谢病筛查的临床资料齐全且未患遗传代谢病(IMD)的65000例新生儿检测数据,其中足月儿60752例,早产儿4248例,早产儿根据胎龄分为极早产组(胎龄<32周,n=465)、中期早产组(32≤胎龄<34周,n=599)、晚期早产组(34≤胎龄<37周,n=3184),切值采用百分位数法(P_(0.5),P_(99.5))表示。结果早产儿11种氨基酸和31种肉碱均呈偏态分布,不同胎龄组早产儿与足月对照组氨基酸和肉碱均有统计学意义(P<0.05)。其中11种氨基酸中不同胎龄早产组参考区间上下限丙氨酸(alanine,Ala)、鸟氨酸(ornithine,Orn)、甘氨酸(glycine,Gly)、脯氨酸(proline,Pro)均低于足月对照组而精氨酸(arginine,Arg)均高于足月对照组;31种肉碱中不同胎龄早产组参考区间上下限己二酰肉碱(adipylcarnitine,C6DC)、棕榈酰肉碱(palmitoylcarnitine,C16)、3-羟基棕榈烯酰肉碱(3-hydroxypalmitenoylcarnitine,C16:1OH)、十八碳酰肉碱(octadecyloylcarnitine,C18)、十八碳烯酰肉碱(octadecyloylcarnitine,C18:1)均低于足月组,甲基丙二酰基肉碱+3-羟基异戊酰基肉碱(methylmalonylcarnitine+3-hydroxyisovalerylcarnitine,C4DC+C5OH)、异戊酰基肉碱(isovaleroylcarnitine,C5)、异戊烯酰基肉碱(isopentenylcarnitine,C5:1)、辛酰基肉碱(capryloylcarnitine,C8)、辛烯酰基肉碱(octenoylcarnitine,C8:1)、葵二烯酰肉碱(kuwaidi Dienoylcarnitine,C10:2)、肉豆蔻二烯酰肉碱(myristoylcarnitine,C14:2)、3-羟基肉豆蔻酰肉碱(3-hydroxymyristoylcarnitine,C14OH)、十八碳二烯酰肉碱(octadecyloylcarnitine,C18:2)高于足月组。结论初步建立广西地区不同胎龄早产儿氨基酸和肉碱切值,为早产儿氨基酸、脂肪酸和有机酸代谢障碍性疾病的精准筛查及诊断提供参考依据,并为临床监测�Objective To analyze and compared the amino acid and carnitine levels in dried blood spots of preterm and full-term infants of different gestational ages,so as to establish the cut-off value of preterm infants of different gestational ages in Guangxi.Methods A retrospective analysis of 65000 neonates without inherited metabolic disorders(IMD)who were screened for genetic and metabolic diseases in the screening area of Guangxi Neonatal Disease Screening Center from 2019 to 2021 were selected,including 60752 full-term infants and 4248 premature infants.According to gestational age,the preterm infants were divided into three groups,extremely preterm group(GA 32,n=465),moderate preterm group(32≤GA<34,n=599)and late preterm group(34≤GA<37,n=3184).The cut-off value was expressed by percentile method(P_(0.5),P_(99.5)).Results The 11 kinds of amino acids and 31 kinds of carnitine in preterm infants showed a skewed distribution,and the amino acids and carnitine in the preterm infants among different gestational age groups and the full-term control group were significant different(P<0.05).Among the 11 amino acids,the upper and lower limits of the reference interval of alanine(Ala),ornithine(Orn),glycine(Gly),and proline(Pro)in the preterm group of different gestational ages were significantly lower than those of the full-term control group,while arginine(Arg)was significantly higher than that of the full-term control group.The upper and lower limits of adipylcarnitine(C6 DC),palmitoylcarnitine(C16),3-hydroxypalmitenoylcarnitine(C16:1 OH),octadecyloylcarnitine(C18),and octadecyloylcarnitine(C18:1)were significantly lower than those of the full-term group,while methylmalonylcarnitine+3-hydroxyisovalerylcarnitine(C4DC+C5OH),isovaleroylcarnitine(C5),isopentenylcarnitine(C5:1),capryloylcarnitine(C8),octenoylcarnitine(C8:1),kuwaidi Dienoylcarnitine(C10:2),myristoylcarnitine(C14:2),3-hydroxymyristoylcarnitine(C14 OH)and octadecyloylcarnitine(C18:2)were significantly higher.Conclusion The cut-off values of amino acids and carn

关 键 词：广西地区 不同胎龄 早产儿 氨基酸 肉碱 切值 

分 类 号：R722.11[医药卫生—儿科] R722.6[医药卫生—临床医学]