157例新生儿甲基丙二酸血症的临床分析  

Clinical analysis of 157 cases of neonatal methylmalonic acidemia

作　　者：贾晨路[1] 赵德华[1] 李晓乐[1] 刘素娜[1] 罗春伟[1] JIA Chen-lu;ZHAO De-hua;LI Xiao-le;LIU Su-na;LUO Chun-wei(Department of Neonatal Disease Screening,Third Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450000,China)

机构地区：[1]郑州大学第三附属医院新生儿疾病筛查科,河南郑州450000

出　　处：《中国卫生检验杂志》2020年第23期2886-2889,共4页Chinese Journal of Health Laboratory Technology

摘　　要：目的分析新生儿甲基丙二酸血症(MMA)的临床特点,以期指导临床制定治疗方案,提高出生人口素质。方法选择2012年1月-2018年8月本院157例MMA患儿为研究对象,分析其临床资料,评估其临床表现、常规化验结果、辅助检查、液相色谱-串联质谱分析技术(LC-MS/MS)、气相色谱-质谱联用分析技术(GC-MS)检测结果与治疗效果。结果 157例MMA患儿发病年龄在1 d^10岁,常规化验结果:43例患儿白细胞升高,40例有不同程度红细胞计数下降,60例尿常规异常,31例肾功能异常,28例肝功能异常,57例心肌酶谱异常,18例血气分析异常,8例血糖下降,102例血乳酸升高,80例血氨上升;LC-MS/MS检测C3、C3/CO、C3/C2偏高,GC-MS检测有机酸发现甲基丙二酸显著升高,血清同型半胱氨酸结果异常98例,诊断为MMA合并同型半胱氨酸血症98例(62.42%);114例有神经系统损伤症状患儿进行了MRI检查,发现异常99例,典型改变为双侧额顶叶脑白质内呈长T1长T2信号影,FLAIR序列信号改变,余脑实质内未见异常信号,15例无异常;157例患儿中98例为维生素B12有效型(62.42%),59例为维生素B12无效型(37.58%)。结论发育迟缓、抽搐、嗜睡、乏力、肌张力下降、反应弱等为MMA患儿常见临床表现,对其进行LC-MS/MS筛查,应用GC-MS等技术明确诊断有重要意义。Objective To analyze the clinical features of neonatal methylmalonic acidemia( MMA) in order to guide clinical treatment programs,improve the quality of the birth population. Methods A total of 157 MMA patients in our hospital from January 2012 to August 2018 were selected for the study. The clinical data of children patients were analyzed,and their clinical manifestations,routine laboratory results,detection results of auxiliary tests,and liquid chromatography-tandem mass spectrometry( LC-MS/MS) and gas chromatography-mass spectrometry( GC-MS) and the treatment effects were evaluated. Results The onset age of 157 children patients with MMA was within 1 d-10 years old. Routine laboratory results showed 43 cases of elevated white blood cells,40 cases of varying degrees of decreased red blood cell count,60 cases of abnormal urine routine,31 cases of renal dysfunction,28 cases of liver dysfunction,57 cases abnormal myocardial enzyme,18 cases of abnormal blood gas analysis,8 cases of decreased blood glucose,102 cases of elevated blood lactic acid and 80 cases of increased blood ammonia. High propionyl-carnitine( C3),ratio of C3 and free carnitine( C3/CO) and ration of C3 and acetylcarnitine( C3/C2) were detected by LC-MS/MS. GC-MS detection of organic acids found that methylmalonic acid was significantly elevated and serum homocysteine result was abnormal in 98 cases,and MMA with homocysteinemia was diagnosed in 98 cases( 62. 42%). MRI examination was performed on 114 cases with nervous system injury symptoms,and 99 cases were found to be abnormal,and the typical changes were that there was a long T1 long T2 signal shadow in the bilateral frontal parietal lobe white matter,changed FLAIR sequence signal and no abnormal signal in the remaining brain parenchyma,and 15 cases were without abnormalities. Among 157 children patients,98 cases were effective of vitamin B12( 62. 42%) and 59 cases were ineffective of vitamin B12( 37. 58%). Conclusion Developmental retardation,convulsions,lethargy,fatigue,decreased muscle tensio

关 键 词：新生儿 甲基丙二酸血症 液相色谱-串联质谱分析技术 气相色谱-质谱联用分析技术 

分 类 号：R722.1[医药卫生—儿科]