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目的:探讨分析低出生体重儿(LBW)游离肉碱水平对患儿的影响及串联质谱(MS/MS)技术检测游离肉碱水平的应用评价。方法:选择2013年6月~12月在柳州市新生儿疾病筛查中心进行游离肉碱检测的新生儿,其中LBW(体重<2 500 g)510例为观察组,选取同期正常体重儿(体重≥2 500 g)510例为对照组。使用美国AB公司API3200MS/MS仪器,运用衍生化法处理标本后检测分析两组游离肉碱水平,对检测数据进行统计学分析。结果:观察组与对照组游离肉碱均数分别为11.04 mmol/L和15.74 mmol/L,观察组明显低于对照组,差异具有统计学意义(P<0.05)。观察组中体重<1 500 g、1 500 g~、2 000 g~游离肉碱均数分别为10.04 mmol/L、15.81 mmol/L、20.11 mmol/L,组间两两比较差异具有统计学意义(P<0.05)。结论:LBW的游离肉碱水平明显低于正常体重新生儿,易发生游离肉碱缺乏症或相关并发症,运用MS/MS技术检测其游离肉碱水平,对进一步了解LBW先天性肉碱缺乏,增强临床医生对该群体患儿的干预及后期指导能力,从而进一步提高诊疗水平,减少漏诊、误诊,降低婴幼儿死亡率及致残率具有重要意义。
Objective: To evaluate the effect of free carnitine (LBW) in children with low birth weight (LBW) and the application of tandem mass spectrometry (MS / MS) to detect free carnitine. Methods: Neonates with free carnitine detection were selected from Liuzhou Neonatal Disease Screening Center from June 2013 to December 2013. Among them, 510 cases of LBW (body weight <2 500 g) were selected as observation group, ≥2 500 g) 510 cases as control group. US AB company API3200MS / MS instrument, the use of derivatization method after the test sample analysis and analysis of two groups of free carnitine levels, the test data for statistical analysis. Results: The average number of free carnitine in the observation group and control group were 11.04 mmol / L and 15.74 mmol / L, respectively. The observation group was significantly lower than the control group (P <0.05). In the observation group, the average number of free carnitine with weights of 1 500 g, 1 500 g ~, 2 000 g ~, respectively, were 10.04 mmol / L, 15.81 mmol / L and 20.11 mmol / L, respectively (P <0.05). CONCLUSION: Free carnitine level of LBW is significantly lower than that of normal weight neonates, prone to free carnitine deficiency or related complications. The free carnitine level of LBW was detected by MS / MS. To further understand the congenital carnitine deficiency of LBW, It is of great significance to enhance clinicians’ intervention and late-stage guidance ability in children with this group to further improve the diagnosis and treatment, reduce the missed diagnosis, reduce the misdiagnosis, and reduce the infant mortality and morbidity.