儿童脑脊髓液氨基酸及酰基肉碱参考范围的初步建立

摘要

目的 初步建立儿童脑脊髓液氨基酸及酰基肉碱参考范围,为临床诊治遗传代谢病提供依据.方法 回顾性分析了采用串联质谱检测2010至2014年间来上海交通大学医学院附属新华医院儿科就诊的152例癫痫儿童脑脊髓液中氨基酸及酰基肉碱水平,分析其与年龄、性别的相关性;分析其中60例儿童脑脊髓液与血液氨基酸及酰基肉碱水平的差异.数据采用方差分析、Wilcoxon秩和检验及Spearman相关分析.结果 初步建立了儿童脑脊髓液氨基酸及酰基肉碱参考范围.血甲硫氨酸水平为18.66(15.24 ～ 24.11) μmol/L,戊二酰基肉碱水平为0.03(0.02 ～0.04) μmol/L,与脑脊髓液水平[23.41(13.80 ～28.58) μmol/L、0.03 (0.02～0.04) μmol/L]相近,差别无统计学意义(Z值分别为-0.69、-0.09,P均＞0.05);血精氨酸水平为3.82(2.00 ～8.36) mol/L,低于脑脊髓液水平[38.37(34.15 ～48.41) μmol/L],差别有统计学意义(Z=-6.74,P＜0.05);其余9种氨基酸、13种酰基肉碱血液浓度均高于脑脊髓液浓度,差异有统计学意义(P均＜0.05).结论 本研究初步建立了脑脊髓液氨基酸、酰基肉碱参考范围.%Objective To establish the reference values for some amino acids and acylcarnitines in cerebrospinal fluid of children,and provide evidence for the diagnosis of inherited metabolic diseases.Methods Retrospective study was made on 152 children with epilepsy collected from 2010 to 2014 in Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine.The levels of amino acids and acylcarnitines in the cerebrospinal fluid of these children were detected by tandem mass spectrometry,with their correlation with age and gender analysed,and their differences between blood and cerebrospinal fluid in 60 children were observed.Variance,Wilcoxon rank sum test and Spearman correlation were used for data analysis.Results These normal reference values of amino acids and acylcarnitines in cerebrospinal fluid of children were established.The Methionine and glutarylcarnitine levels in blood and cerebrospinal fluid had no difference [Methionine:18.66 (15.24-24.11) vs 23.41 (13.80-28.58) μmol/L,glutarylcamitine:0.03(0.02-0.04) vs 0.03(0.02-0.04) mol/L],(Z =-0.69,-0.09,all P ＞0.05)The arginine levels in blood was 3.82 (2.00-8.36) μmol/L,which was lower than cerebrospinal fluid [38.37(34.15-48.41) μmol/L],(Z =-6.74,P ＜0.05),while the other 9 kinds of amino acids and 13 kinds of acylcarnitines were higher in blood (all P ＜ 0.05).Conclusions The normal reference levels of amino acids and acylcarnitines in cerebrospinal fluid of children have been established,which may play a essential role in the diagnosis of inherited metabolic diseases.