1例罕见线粒体病分析  

Clinical Analysis of 1 Case With Rare Mitochondrial Disease

作　　者：毕玫荣[1] 王莹[1] 徐谧[1] 朱薇薇[1] 

机构地区：[1]山东大学附属济南市中心医院,250013

出　　处：《中国卫生标准管理》2015年第25期91-92,共2页China Health Standard Management

摘　　要：线粒体疾病通常累及多个系统,表现具有高度差异,基因检测为线粒体疾病诊断的金标准。本文中患儿为生后即以反应差、酸中毒、贫血发病,给予基因检测确诊为联合氧化磷酸化缺陷14型。此病非常罕见,资料显示仅有两例报道。其父母分别含有一个突变基因,且这两个突变均未见报道。Mitochondrial diseases usual y involve multiple organ systems,present with a greatness diversity of clinical manifestations,genetic testing is the gold standard for the diagnosis of mitochondrial diseases,here we present a case of disease,a baby with poor response,acidosis and anemia after born was final y diagnosed with the combined oxidative phosphorylation defect type 14 by genetic testing,the disease is rare and only two cases are reported, their parents each contain a mutated gene which is not present in current documents.

关 键 词：线粒体病 酸中毒 基因检测 

分 类 号：R596[医药卫生—内科学]