以昏迷为首发症状的甲基丙二酸血症3例临床研究  

Methylmalonic acidemia with initial symptom of coma:clinical analysis of 3 cases

作　　者：蔡虹[1] 王立文[1] 吕凌云[1] 徐光芝[1] 吴建新[1] 张霆[1] 张春花[1] 赵基原[2] 王义明[2] 罗国安[2] 

机构地区：[1]首都儿科研究所,北京100020 [2]清华大学生命科学工程研究所,北京100084

出　　处：《中国实用儿科杂志》2004年第3期162-164,共3页Chinese Journal of Practical Pediatrics

基　　金："973"国家重点基础研究发展规划项目-中国人口出生缺陷的遗传与环境可控性研究 (2 0 0 1CB5 10 3 0 6)

摘　　要：目的　通过对 3例以昏迷为主诉而入院的甲基丙二酸血症 (MMA)患儿的临床治疗及生化学监测的分析 ,提高儿科医生对昏迷、酸中毒与遗传代谢性疾病的关系的认识。方法　 (1)应用气相色谱 质谱分析法对 3例患儿进行尿液生化学检测。 (2 )纠正酸中毒、对症治疗的同时应用大剂量维生素B12 对患儿进行治疗 ,对昏迷期、治疗后清醒期及出院后的血气和尿液中甲基丙二酸水平进行对比。结果　 (1) 3例患儿尿液中甲基丙二酸均异常增高。(2 )患儿酸中毒被纠正、治疗后清醒期及出院后 ,尿液中甲基丙二酸水平降低 ,但仍明显高于正常。 (3)患儿经长期维生素B12 治疗后 ,生长发育可以同正常儿童。结论　 (1)对婴儿不明原因的酸中毒、昏迷应注意有机酸代谢病并及早检查病因。 (2 )纠正酸中毒是急性期抢救昏迷的主要治疗措施 ,对于确诊为MMA患儿应及早应用大剂量维生素B12 治疗以减少神经系统并发症。Objective To improve the pediatrician's knowledge of the relationship between the symptom of coma,ketoacidosis and inborn error of metabolism through the summary of three cases of methylmalonic acidemia(MMA) with initial symptom of coma.Methods The urine of three patients was detected by GC/MS.The treatment with booster doses of vitamin B 12 was performed and comparison was done in the arterial blood-gas and urine between before and after the treatment in the patients.Results Higher methylmalonic acid level was found in the three patients.The methylmalonic level in urine was lower than that of pretreatment and higher than normal.The growth of patients was similar to normal children after long-term treatment with booster dos age of vitamin B 12.Conclusion Inborn error of metabolism should be stressed and the causes of the symptom of coma and ketoacidosis be studied.The treatment for acidosis is the key in acute coma and the booster dos age of vitamin B 12 should be administered as soon as diagnosis is made so as to avoid the complication in nervous system.

关 键 词：昏迷 首发症状 甲基丙二酸血症 临床研究 气相色谱-质谱 检测 

分 类 号：R725.9[医药卫生—儿科]