新生儿甲基丙二酸血症6例临床分析

摘要

目的：提高儿科医生对甲基丙二酸血症（methylmalonic acidemia，MMA）的认识，减少误诊率。方法：对本院6例MMA新生儿患者的临床资料进行回顾性分析。结果：6例主要临床特点为喂养困难、反应差、反复黄疸、肢体震颤、血小板减少、贫血、高氨血症等。应用气相色谱/质谱联用分析法（GC/MS）行尿有机酸分析均发现尿甲基丙二酸明显增高。确诊后4例给予大剂量VitB12应用，限制蛋白质摄入量。出院前2例临床症状明显改善，随访营养、体格发育良好，2例随访肌张力低、发育迟缓，2例确诊前放弃治疗后死亡。结论：新生儿MMA临床特点不典型，对症治疗效果差时应及早行血、尿有机酸检测明确诊断，使更多的患儿得到及时诊断和治疗。%Objective:To improve the pediatrician’s knowledge of methylmalonic acidemia(MMA).Method:6 cases of neonate with disease of MMA by the way of retrospective analysis were studied.Result:The main clinical feature of 6 neonates with MMA was feeded hardly,reacting badly, jaundice repeatedly,limbs trembling,plate-reduction,anemia,hyperammonemia and so on.The urine of 6 patients was detected by GC/MS.Higher methylmalonic acid level was found in the 6 patients.The booster dosage of vitaminB12 was administered as soon as diagnosis was made on 4 patients. The intake of protein was limited.The clinical symptom of 2 patients was improved obviously prior to discharge.Period of follow-up 2 patients were good in nutrition,physical constitution and development,but low muscular tension and hypoevolutism were found in 2 patients.2 patients were died before the diagnosis was made.Conclusion:The clinical feature of MMA is not obvious.When curative effect of symptomatic treatment is bad,the urine and the blood of the patients should be detected by GC/MS so as to identify the diagnosis and treat in time.