机构地区:[1]广西壮族自治区妇幼保健院遗传代谢中心实验室,广西出生缺陷预防控制研究所,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,南宁530012
出 处:《国际儿科学杂志》2022年第12期838-844,共7页International Journal of Pediatrics
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:目的探讨早产儿血肉碱代谢变化特点及其影响因素。方法回顾性分析2018年至2021年于广西新生儿疾病筛查中心进行遗传代谢病筛查且检测结果为阴性的37037例新生儿,其中34517例正常足月儿为对照组,2520例早产儿为研究组。早产儿根据胎龄分为极早产组(n=232)、中期早产组(n=324)、晚期早产组(n=1964);根据出生体重分为极低出生体重组(n=188)、低出生体重组(n=1276)、正常出生体重组(n=1056);根据出生后采血时间分为3~7 d日龄组(n=1990)、8~14 d日龄组(n=342)、15~28 d日龄组(n=188)。采用串联质谱法检测干血斑中31种肉碱水平并分析各组代谢指标水平差异。结果早产儿肉碱水平受胎龄影响最大。控制早产儿生理及病理状态等相关因素后,按胎龄分组,各组间31种肉碱水平均有差异(均P<0.05),胎龄越小肉碱水平差异越大;按采血时间分组,早产儿不同采血日龄组间与足月3~7 d日龄组肉碱水平比较差异均有统计学意义(均P<0.05),并且呈日龄相关性;按体重分组,31种肉碱在各组间比较差异均有统计学意义(均P<0.05),体重越小,肉碱水平差异越大。联合胎龄、出生体重及采血日龄分析,筛选出游离肉碱(C0)、乙酰基肉碱(C2)、丙酰基肉碱(C3)、丁酰基肉碱(C4)、己二酰肉碱(C6DC)、葵酰肉碱(C10)、葵烯酰肉碱(C10∶1)、月桂酰肉碱(C12)、月桂烯酰肉碱(C12∶1)、肉豆蔻酰肉碱(C14)、肉豆蔻烯酰肉碱(C14∶1)、3-羟基肉豆蔻酰肉碱(C14OH)、棕榈酰肉碱(C16)、棕榈烯酰肉碱(C16∶1)、十八碳酰肉碱(C18)、十八碳烯酰肉碱(C18∶1)、3-羟基十八碳烯酰肉碱(C18∶1OH)17个指标为早产儿肉碱代谢的重要生物标志物。结论早产新生儿体内肉碱在不同胎龄、出生体重和采血日龄呈现不同的代谢差异,为建立该地区实验室早产儿参考标准和判读提供有力依据,为临床进行合理有效的早期诊断和治疗提供帮助,为及时发现肉碱缺�Objective To explore the characteristics and influencing factors of blood carnitine metabolism in premature infants.Methods A retrospective analysis of 37037 neonates with negative results of genetic metabolic disease screening at Guangxi Newborn Disease Screening Center from 2018 to 2021,of which 34517 normal full-term infants were the control group and 2520 preterm infants were the research group.According to gestational age,the preterm infants were further divided into three groups:extremely preterm group(n=232),moderately preterm group(n=324)and late preterm group(n=1964).According to birth weight,they were divided into three groups:very low birth weight group(n=188),low birth weight group(n=1276)and normal birth weight group(n=1056).According to blood collection time,they were divided into three groups:3~7 days group(n=1990),8~14 days group(n=342)and 15~28 days group(n=188).Tandem mass spectrometry was used to detect the levels of 31 carnitines in dried blood spots and analyze the differences in the levels of metabolic indicators in each group.Results Carnitine levels in preterm infants are most affected by gestational age.Adjusting the physiological and pathological conditions of premature infants and other related factors,grouped by gestational age,there were differences in the levels of 31 carnitines among the groups(all P<0.05),the smaller the gestational age,the greater the difference in carnitine levels;grouped by blood collection time,there were statistically significant differences in carnitine levels between preterm infants with different blood collection age groups and full-term 3~7 days groups(all P<0.05),and showing age-related;there are differences among 31 carnitines grouped by body weight(all P<0.05),the smaller the body weight,the greater the difference in carnitine levels.Combined with the analysis of gestational age,birth weight and blood collection date,17 indicators including C0,C2,C3,C4,C6DC,C10,C10∶1,C12,C12∶1,C14,C14∶1,C14OH,C16,C16∶1,C18,C18∶1 and C18∶1OH are important bio
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