以三系减少发病的早发型甲基丙二酸血症合并同型半胱氨酸血症1例  

A case report of methylmalonicacidemia and homocysteinemia with hemocytopenia as the first symptom and literature review

作　　者：侯风丽 江燕[1] 魏林[1] 徐瑞峰[1] 安彩霞 王卫凯[1] HOU Fengli;JIANG Yan;WEI Lin;XU Ruifeng;AN Caixia;WANG Weikai(Gansu Provincial Maternity and Child-Care Hospital,Lanzhou,Gansu 730050,China)

机构地区：[1]甘肃省妇幼保健院,甘肃兰州730050

出　　处：《中国优生与遗传杂志》2021年第8期1147-1150,共4页Chinese Journal of Birth Health & Heredity

基　　金：国家重点研发计划(2018YFC1002504)。

摘　　要：目的探讨甲基丙二酸血症血细胞变化的临床特征、发病特点及其误诊原因。方法回顾性分析2020年11月甘肃省妇幼保健院收住的1例以血细胞三系减少发病的早发型甲基丙二酸血症合并同型半胱氨酸血症患儿临床资料,并复习相关文献。结果患儿于2月龄因三系减少入院,5天后经血串联质谱及尿气相质谱诊断为MMA。行基因检测显示MMACHC基因复合杂合突变c.315C>G及c.609G>A,确诊为Cb1C型甲基丙二酸血症伴同型半胱氨酸血症。结论首发症状为三系减少的早发型甲基丙二酸血症,易误诊为血液系统疾病,其病情危重、预后差、病死率高;对血细胞三系减少的患儿,诊疗上要开拓思路,完善血尿串联质谱,早诊断和早治疗是MMA改善预后的关键。Objective Investigate the pathogenesis,clinical features and misdiagnosis of blood cell changes in methylmalonic acidemia.Methods To retrospectively analyze the clinical data of a case of early onset methylmalonic acidemia in Gansu Provincial Maternity and Child-Care Hospital in November 2020,and review the related literature.Results The patient was admitted to hospital at 2 months of age due to hemocytopenia.Five days later,the diagnosis of MMA was made by blood tandem mass spectrometry and urine gas chromatography mass spectrometry.After gene detection,compound heterozygous mutation c.315 C>G and c.609 G>A were found in MMACHC gene,which confirmed the diagnosis of methylmalonic acidemia with hyperhomocysteinemia Cb1 C.Conclusion The first symptom is early-onset methylmalonic acidemia with hemocytopenia,which is easy to be misdiagnosed as hematological diseases,and the condition is critical,the prognosis is poor,and the mortality is high.For children with hemocytopenia,the diagnosis and treatment should develop ideas,improve blood genetic metabolism tandem mass spectrometry and urine gas chromatography mass spectrometry,and early diagnosis and treatment are the key to improve the prognosis of methylmalonic acidemia.

关 键 词：甲基丙二酸血症 同型半胱氨酸血症 串联质谱 血小板减少 MMACHC基因 

分 类 号：R725.8[医药卫生—儿科]