新生儿线粒体病  

Neonatal mitochondrial disease

作　　者：侯阿娜[1] Hou Ana(Department of Pediatrics,Shengjing Hospital of China Medical University,Shenyang 110004,China)

机构地区：[1]中国医科大学附属盛京医院儿内科,沈阳110004

出　　处：《中国小儿急救医学》2021年第8期663-667,共5页Chinese Pediatric Emergency Medicine

基　　金：辽宁省社发重大专项(2020JH1/10300001);辽宁省重点研发计划联合计划(2020JH2/10300131)。

摘　　要：线粒体病(MD)是指由于线粒体DNA或核DNA突变导致的氧化磷酸化系统或丙酮酸脱氢酶复合物功能障碍而出现的能量代谢障碍性疾病,可发生于从新生儿期到成人期的任何年龄,并常以综合征发病。新生儿期主要临床表现包括早产、宫内生长受限、肌张力低下、呼吸困难、惊厥、喂养困难、高乳酸血症等,缺乏特异性。新生儿期发病的综合征包括Leigh综合征、线粒体脑肌病-乳酸酸中毒-卒中样发作综合征、Alpers综合征、儿童肌脑肝病谱系障碍、Barth综合征及Pearson综合征等。目前MD需依赖临床症状、生化检测、神经影像学、组织学检测和基因检测等技术进行诊断,其治疗尚缺乏特效药物,探索新的治疗途径,如基因治疗和外源性线粒体移植,是未来研究的方向。Mitochondrial disease refers to an energy metabolic disorder caused by dysfunction of oxidative phosphorylation system or pyruvate dehydrogenase complex as a result of mitochondrial DNA or nuclear DNA mutation.It can occur at any age arranging from newborn to adult,which is often presented as clinical syndromes.Common clinical manifestations in neonatal period include premature delivery,intrauterine growth restriction,hypotonia,dyspnea,convulsions,feeding difficulties,hyperlactic acid,etc,lacking of specificity.Neonatal onset syndromes include Leigh syndrome,mitochondrial encephalomyopathy-lactic acidosis and stroke-like episodes syndrome,Alpers syndrome,myocerebrohepatopathy spectrum disorder,Barth syndrome and Pearson syndrome.The diagnosis depends on the comprehensive analysis of clinical symptoms,biochemical tests,neuroimaging,histological tests and genetic tests.In most cases,there are few effective drugs.Gene therapy and exogenous mitochondrial transplantation are the directions of future exploration.

关 键 词：线粒体病 线粒体脑肌病 新生儿 

分 类 号：R722.1[医药卫生—儿科]