新生儿有机酸血症临床分析  

Clinical analysis of neonatal organic acidemia

作　　者：何建平[1] 钟雁[1] 杨学芳[1] 王慧欣[1] 杨彩云[1] 顾松[1] 

机构地区：[1]首都医科大学附属北京儿童医院新生儿内科,100045

出　　处：《北京医学》2009年第6期350-352,共3页Beijing Medical Journal

摘　　要：目的探讨新生儿有机酸血症的临床特点和治疗方法。方法回顾性分析24例新生儿有机酸血症的临床资料,采用气相色谱-质谱法(gas chromatography-mass spectrometry,GC/MS)进行尿或血有机酸分析。结果本组患儿症状主要表现为喂养困难(20例),反应减弱(18例),呕吐(7例),呼吸急促(4例),惊厥(7例),肌张力减低(17例)等。血小板减少13例,血气分析提示失代偿性酸中毒7例。10例确诊甲基丙二酸血症患儿接受维生素B12治疗,同时予低蛋白饮食及左旋肉碱治疗。2例死亡。随访8例,时间2个月～3年5个月,4例临床症状完全消失,4例明显好转。结论新生儿有机酸血症的临床表现是非特异性的,可依据GC/MS尿有机酸分析确诊,早期发现和治疗是改善预后的关键。Objective To explore the clinical characteristics and treatment of neonatal organic acidemia. Methods The clinical data of 24 patients with neonatal organic acidemia including 20 cases of methylmalonic acidemia （MMA）, 3 cases of propionic acidemia（PA） and one case of glutaric academia, were analyzed by gas chromatography - mass spectrometry（GC/MS）. Results The patients consisted of 18 males and 6 females with age of onset ranged from 0 to 23 days. The main clinical manifestations were poor feeding（20 cases）, weak reaction（ 18 cases）, vomiting（7 ca- ses）, hyperpnea（4 cases）, convulsion（7 cases）, hypotonia（17 cases）. 13 cases were presented with thrombocytope- nia. The laboratory findings showed metabolic acidosis in 7 cases. 10 cases with MMA received therapy of vitamin B12 and supplementation of L - carnitine with restricted - protein diet. Two cases died. The follow - up for 2 - 41 months of the 8 survivals with medical therapy showed a favorable outcome in which there were no symptoms in 4 cases and apparent im- provement in 4 cases. Conclusions The clinical manifestations of neonatal organic acidemia are nonspecific. GC/MS can be used to confirm the diagnosis. Early diagnosis and early treatment is the key to improve the prognosis.

关 键 词：有机酸血症 甲基丙二酸 维生素B12 碎片质谱法 

分 类 号：R722.1[医药卫生—儿科]