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目的对新生儿期发病的甲基丙二酸血症(MMA)患儿的临床特征进行分析,提高早期识别、早期诊断该病的能力。方法对2008年6月-2011年8月河南省15家省市级医院新生儿童症监护病房确诊的28例MMA患儿临床资料进行回顾性分析。男17例,女11例;足月儿27例,早产儿1例。结果新生儿期MMA多于出生1周内起病,起病越早,病情越重,预后越差,遗传家族史有助于疾病诊断。首发症状主要表现为呼吸急促及呼吸困难(9/28例)、反应差和拒乳(6/28例)、嗜睡(4/28例)、抽搐(3/28例)等。实验室检查异常主要为严重代谢性酸中毒(12/28例)、血糖增高(10/28例)、高氨血症(7/28例)等。结论新生儿期起病的MMA其临床表现无特异性,病情进展快,病死率高,预后极差。应加强对新生儿期起病MMA的早期识别能力。
Objective To analyze the clinical features of children with MMA in the neonatal period and to improve the ability of early identification and early diagnosis of the disease. Methods The clinical data of 28 MMA patients diagnosed in neonatal intensive care unit of 15 provincial and municipal hospitals in Henan province from June 2008 to August 2011 were analyzed retrospectively. There were 17 males and 11 females, 27 full-term children and 1 premature infant. Results The newborn MMA more than one week after birth onset, the earlier onset, the more serious the disease, the worse the prognosis, the genetic family history contributes to the disease diagnosis. The first symptom mainly manifested as shortness of breath and dyspnea (9/28 cases), poor response and rejection of milk (6/28 cases), lethargy (4/28 cases), convulsions (3/28 cases) and so on. Abnormal laboratory tests were mainly severe metabolic acidosis (12/28 cases), hyperglycemia (10/28 cases), hyperammonemia (7/28 cases) and so on. Conclusion The onset of neonatal MMA has no specific clinical manifestations, rapid progression, high mortality and poor prognosis. Should strengthen early diagnosis of MMA in neonatal onset ability.