以血细胞减少发病的新生儿甲基丙二酸血症临床分析

Clinical analysis of neonatal methylmalonic academia with cytopenia

目的 探讨新生儿甲基丙二酸血症血细胞改变的发病特点与临床特征。方法 回顾性分析2015年1月至2017年12月首都儿科研究所附属儿童医院收治的以血细胞异常起病的早发甲基丙二酸血症患儿的临床资料。结果 5例患儿均为男性,均发病于新生儿期,其中2例于早期新生儿期发病,3例于晚期新生儿期发病。4例起病首发表现为两系血细胞减少,1例为三系血细胞减少。3例经治疗后好转,2例因病情危重而放弃治疗。结论 在新生儿期发病、首发症状为血细胞减少的甲基丙二酸血症,诊断容易延误,而且病情危重、预后差;对新生儿期发生血细胞减少的患儿,诊疗方面应开拓思路,早期诊断和治疗是改善甲基丙二酸血症预后的关键。

Objective To investigate the hemocyte features and the clinical characteristics of methylmalonic acidemia(MMA)in neonates.Method Retrospective analysis was performed on 5 neonates of MMA with hemocyte abnormalities from January 2015 to December 2017.Result All 5 patients were male and onset in neonatal period.4 cases were with 2 types of cytopenia,1 case was with 3 types of cytopenia.3 patients improved after treatment,2 patients abandoned treatment due to critical illness.Conclusion MMA by cytopeniais easy to be misdiagnosed,with critical condition and poor prognosis.Early diagnosis and treatment is the key to improve the prognosis.