1例以难治性贫血为首发表现的晚发型甲基丙二酸尿症患者的诊治分析  

One case analysis of late-onset methylmalonic aciduria with refractory anemia as the first manifestation

作　　者：王琰 徐源[1] 陈祥云 孙忠亮[1] WANG Yan;XU Yuan;CHEN Xiangyun;SUN Zhongliang(Department of Hematology,Jining First People’s Hospital,Jining,Shandong 272100,China)

机构地区：[1]济宁市第一人民医院血液内科,山东济宁272100

出　　处：《医药前沿》2022年第21期4-8,共5页Journal of Frontiers of Medicine

摘　　要：目的:分析以难治性贫血起病的晚发型甲基丙二酸尿症(MMA)临床特点及误诊原因。方法:分析2020年6月济宁市第一人民医院收治的1例以难治性性贫血为首发症状的晚发型MMA患者的临床资料,并进行文献复习。结果:实验室检查显示白细胞减少(3.17×10^(9)/L),血红蛋白减少(74 g/L),叶酸、维生素B12等未见明显异常;颅脑MRI提示新发脑梗死,陈旧性脑出血。给予输血治疗后患者贫血好转,但症状反复发作,并伴有输血依赖。进一步完善血液肿瘤基因测序提示MMAHC基因杂合突变,诊断为晚发型MMA。结论:晚发型MMA发病率低,发病时可累及多脏器功能损害。以难治性性贫血为首发症状者,需仔细的采集病史,考虑晚发型MMA的可能,有助于减少晚发型MMA的误诊。Objective To explore the clinical characteristics and causes of misdiagnosis of late-onset methylmalonic aciduria(MMA)with refractory anemia.Methods The clinical data of a late-onset MMA patient with refractory anemia as the first symptom admitted to Jining First People’s Hospital in June 2020 were analyzed retrospectively,and the literature was reviewed.Results Laboratory examination showed leucopenia(3.17×10^(9)/L),hemoglobin decreased(74 g/L),folic acid,vitamin B12 and other no obvious abnormalities;Brain MRI showed new cerebral infarction and old cerebral hemorrhage.After giving blood transfusion treatment,the patient’s anemia improved,but the symptoms recurred,accompanied by blood transfusion dependence.Further improve the blood tumor gene sequencing,suggesting that the mmahc gene heterozygous mutation,diagnosed as late-onset MMA.Conclusion The incidence rate of late-onset MMA is low,and multiple organ function damage may be involved when it occurs.Those with refractory anemia as the first symptom need to carefully collect the medical history and consider the possibility of late-onset MMA,which will help to reduce the misdiagnosis of late-onset MMA.

关 键 词：甲基丙二酸尿症 难治性贫血 误诊 

分 类 号：R556[医药卫生—血液循环系统疾病]