新生儿线粒体病诊断与治疗专家共识(2024)  

Experts consensus on the diagnosis and treatment of neonatal mitochondrial diseases(2024)

作　　者：逯军 王丹虹 钟柏茂 方方[4] 王颖[5] 杨传忠 黄涛生 安宇 彭镜[9] 肖昕[10] 冯琪[5] 罗小平[11] 杨艳玲[5] 崔清洋 Lu Jun;Wang Danhong;Zhong Baimao;Fang Fang;Wang Ying;Yang Chuanzhong;Huang Taosheng;An Yu;Peng Jing;Xiao Xin;Feng Qi;Luo Xiaoping;Yang Yanling;Cui Qingyang(Children's Medical Center,Affiliated Hospital of Guangdong Medical University,Zhanjiang 524000,China;Department of Children's Medicine,Haikou Hospital and Haikou People's Hospital,Xiangya Medical College,Central South University,Haikou 570208,China;Precision Medical Center,Dongguan Children's Hospital Affiliated to Guangdong Medical University,Dongguan 523000,China;Department of Neurology,Beijing Children's Hospital,Capital Medical University,Beijing 100045,China;Children's Medical Center,Peking University First Hospital,Beijing 102600,China;Department of Neonatology,Shenzhen Maternal and Child Health Hospital,Southern Medical University,Shenzhen 518028,China;Institute of Medical Genetics,Fudan University,Shanghai 200032,China;Institute of Human Phenomics,Fudan University,Shanghai 201203,China;Department of Pediatrics,Xiangya Hospital,Central South University,Changsha 410008,China;Department of Pediatrics,the Sixth Affiliated Hospital of Sun Yat-sen University,Guangzhou 510655,China;Department of Pediatrics,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430030,China;Department of Pediatrics,the First Affiliated Hospital of Xinxiang Medical College,Xinxiang 453100,China)

机构地区：[1]广东医科大学附属医院儿童医学中心,湛江524000 [2]中南大学湘雅医学院附属海口医院暨海口市人民医院儿童医学部,海口570208 [3]广东医科大学附属东莞儿童医院精准诊疗中心,东莞523000 [4]首都医科大学附属北京儿童医院神经内科,北京100045 [5]北京大学第一医院儿童医学中心,北京102600 [6]南方医科大学附属深圳妇幼保健院新生儿科,深圳518028 [7]复旦大学医学遗传学研究院,上海200032 [8]复旦大学人类表型组研究院,上海201203 [9]中南大学湘雅医院儿科,长沙410008 [10]中山大学附属第六医院儿科,广州510655 [11]华中科技大学同济医学院附属同济医院儿科,武汉430030 [12]新乡医学院第一附属医院儿科,新乡453100

出　　处：《中华新生儿科杂志（中英文）》2024年第11期647-655,共9页Chinese Journal of Neonatology

基　　金：广东医科大学附属医院高层次人才科研启动基金(1057Z20230003);国家重点研发计划(2021YFC2700903)。

摘　　要：线粒体病是一组遗传代谢病,因线粒体结构和(或)功能异常造成能量代谢功能损害,可导致单器官或多器官功能障碍。在新生儿期发病的线粒体病为新生儿线粒体病。新生儿线粒体病致病基因复杂,患儿表型差异显著,常常病情凶险,缺乏特异和敏感的生物标志物,且治疗方法有限,诊断及救治极具挑战性。为进一步规范新生儿线粒体病的诊断与治疗,新生儿、神经、代谢内分泌及遗传学等专家基于国内外临床证据,结合实践经验,从概念、定义、早期识别、生化代谢、影像、基因检测、病理、治疗、遗传咨询及产前诊断等层面对新生儿线粒体病进行论述,并形成诊疗专家共识。

关 键 词：线粒体病 新生儿 遗传代谢病 诊断治疗 专家共识 

分 类 号：R722.1[医药卫生—儿科]