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目的观察新生儿甲基丙二酸血症(methylmalonic acidemia,MMA)的临床特征,探讨治疗方法。方法对八一儿童医院足月NICU 2011年9月-2013年2月7例应用气相色谱-质谱法(gas chromatography-mass spectrometry,GC/MS)进行尿或血有机酸分析确诊的新生儿MMA的临床资料进行分析。结果 7例患儿中男3例,女4例;发病日龄0~6d,7例均在生后1周内发病。主要表现有反应差6例,喂养困难7例,3例呼吸急促,抽搐2例,肌张力减低7例,血小板减少6例,血气分析提示酸中毒6例,高氨血症4例,7例尿甲基丙二酸浓度明显增高。5例行头颅CT或头颅MR检查,2例检查异常。2例放弃治疗出院后死亡,1例出院后终止治疗,于生后3月死亡,1例出院后失访,2例确诊患儿接受维生素B12治疗,同时予低蛋白饮食及左旋肉碱,临床症状完全消失。1例虽接受维生素B12、左旋肉碱治疗及低蛋白饮食,效果不佳,生后4月死亡。结论新生儿MMA的临床表现是非特异性的,GC/MS尿有机酸分析可确诊本病,早期发现和治疗对改善预后有重要作用。
Objective To observe the clinical features of neonatal methylmalonic acidemia (MMA) and to explore the treatment methods. Methods Eight-month-old children with full-term NICU from September 2011 to February 2013 were analyzed by gas chromatography-mass spectrometry (GC / MS) Clinical data analysis. Results There were 3 males and 4 females in 7 cases. The age of onset was 0 ~ 6 days, and all 7 cases were diagnosed within 1 week after birth. The main manifestations of poor response in 6 cases, feeding difficulties in 7 cases, 3 cases of shortness of breath, convulsions in 2 cases, hypotension in 7 cases, 6 cases of thrombocytopenia, blood gas analysis showed that 6 cases of acidosis, hyperammonemia in 4 cases, 7 cases Urine methylmalonic acid concentration was significantly higher. 5 cases of head CT or skull MR examination, 2 cases check abnormalities. Two patients died after giving up treatment, one patient discontinued treatment after discharge, died in March after birth, one was lost to follow-up after discharge, two were diagnosed with vitamin B12, and both low-protein diet and L-carnitine The symptoms disappear completely. Although 1 case received vitamin B12, L-carnitine treatment and low protein diet, the effect is poor, died in April after birth. Conclusion The clinical manifestations of neonatal MMA are nonspecific. GC / MS urine organic acid analysis can confirm the disease, and early detection and treatment play an important role in improving prognosis.