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目的探讨新生儿甲基丙二酸血症的临床特征。方法收集本院新生儿科2007年6月-2010年2月确诊为甲基丙二酸血症8例新生儿的临床资料,总结其临床表现、气相色谱/质谱串联分析尿有机酸测定结果、血气分析、血糖、乳酸、血氨等特点,并对其诊断、治疗及转归情况进行回顾性分析。结果 8例主要临床特点为喂养困难、反应差、嗜睡、少动、少哭、肌张力低下、原始反射减弱,尿有机酸分析发现甲基丙二酸明显增高,同时血氨、乳酸轻度升高,而呕吐、惊厥、代谢性酸中毒、低血糖、肝肾损伤在新生儿期并不多见。确诊为甲基丙二酸血症,均给予VitB121 mg.d-1,限制蛋白质摄入量,3例用左旋肉碱100 mg.kg-1.d-1。4例临床症状明显改善,营养、体格发育良好,2例随访仍有间断抽搐、肌张力低、发育迟缓,2例死亡。结论依据新生儿甲基丙二酸血症发病特征,做到早发现、早诊断、早治疗,有利于改善预后。
Objective To investigate the clinical features of neonatal methylmalonic acid. Methods The clinical data of 8 neonates with methylmalonic acidemia diagnosed in our hospital from June 2007 to February 2010 were collected and their clinical manifestations were analyzed. The result of gas chromatography / mass spectrometry tandem analysis of urine organic acids, blood gas Analysis, blood sugar, lactic acid, ammonia and other characteristics, and its diagnosis, treatment and prognosis were retrospectively analyzed. Results The main clinical features of 8 patients were poor feeding, poor response, drowsiness, sedentary, crying, low muscle tone, diminished original reflex, urinary organic acid analysis showed that methylmalonic acid was significantly increased, while blood ammonia, lactate slight increase High, and vomiting, convulsions, metabolic acidosis, hypoglycemia, liver and kidney damage in the neonatal period rare. The diagnosis of methylmalonic acidemia, were given VitB121 mg.d-1, limiting protein intake, 3 cases with L-carnitine 100 mg.kg-1.d-1.4 cases of clinical symptoms improved significantly, nutrition , Good physical development, 2 patients were still intermittent convulsions were followed up, low muscle tension, developmental delay, 2 patients died. Conclusion Based on the incidence of neonatal MMR, early detection, early diagnosis and early treatment are helpful to improve the prognosis.