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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 relationship between coma and acidosis and genetic metabolic diseases in pediatric patients by analyzing the clinical treatment and biochemical monitoring of 3 cases of methylmalonic acidemia (MMA) hospitalized in coma. understanding. Methods (1) Three cases of urine biochemical tests were performed by gas chromatography-mass spectrometry. (2) to correct acidosis, symptomatic treatment while applying high-dose vitamin B12 in children with treatment, coma, post-treatment awake and blood and urine after discharge methylmalonic acid levels were compared. Results (1) Methylmalonic acid was abnormally elevated in all three cases of children. (2) children with acidosis were corrected, after treatment and after discharge, the urine methylmalonic acid levels decreased, but still significantly higher than normal. (3) children with long-term vitamin B12 treatment, growth and development can be normal children. Conclusion (1) unknown causes of acidosis in infants, coma should pay attention to organic acid metabolism and early detection of the cause. (2) to correct acidosis is the main treatment of emergency rescue coma, for the diagnosis of MMA should be early application of high-dose vitamin B12 treatment to reduce nervous system complications.