协和医学杂志2025，Vol.16Issue(3)：634-640,7.DOI:10.12290/xhyxzz.2024-0285
线粒体基因大片段缺失导致线粒体糖尿病1例并文献复习
A Case Report of Mitochondrial Diabetes Mellitus Caused by Large Fragment Deletion of Mitochondrial Gene and Literature Review
摘要
Abstract
Mitochondrial diabetes mellitus(MDM)is a genetically heterogeneous disorder caused by mitochondrial DNA(mtDNA)or nuclear DNA mutations,characterized by multi-system involvement and diverse clinical phenotypes.We report a pediatric case presenting with growth retardation followed by subsequent development of diabetes mellitus.Systematic evaluation revealed concurrent bilateral sensorineural hearing loss,bilateral basal ganglia calcification,and electroencephalographic abnormalities.A post-exercise lactate test demonstrated significant elevation of serum lactate levels immediately after physical exertion.Genetic analysis identified a large-scale mitochondrial DNA deletion spanning from m.8649 to m.16084.This case re-port is complemented by a literature review focusing on the pathogenesis,genetic characteristics,and therapeu-tic approaches of mitochondrial diabetes,with particular emphasis on mitochondrial disorders exhibiting large-scale mtDNA deletions alongside diabetic manifestations.Our comprehensive analysis aims to enhance clinical understanding and inform diagnostic strategies for this complex disease entity.关键词
线粒体糖尿病/线粒体基因/乳酸运动试验Key words
mitochondrial diabetes mellitus/mitochondrial gene/lactate exercise test分类
临床医学引用本文复制引用
李冉,廖晋豪,付瀚辉,潘慧,李玉秀,茅江峰,阳洪波,张化冰..线粒体基因大片段缺失导致线粒体糖尿病1例并文献复习[J].协和医学杂志,2025,16(3):634-640,7.基金项目
中央高水平医院临床科研专项(2022-PUMCH-A-249) （2022-PUMCH-A-249）
中国医学科学院中央级公益性科研院所基本科研业务费(2023-PT320-10) （2023-PT320-10）
北京协和医院青年拔尖人才培养项目(UBJ10262) National High Level Hospital Clinical Research Funding(2022-PUMCH-A-249) （UBJ10262）
Non-profit Central Research In-stitute Fund of Chinese Academy of Medical Sciences(2023-PT320-10) （2023-PT320-10）
The Youth Elite Talent Training Project of Peking Union Medical College Hospital(UBJ10262) （UBJ10262）
