A Case Report of Mitochondrial Diabetes Mellitus Caused by Large Fragment Deletion of Mitochondrial Gene and Literature Review
10.12290/xhyxzz.2024-0285
- VernacularTitle: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
- Author:
Ran LI
1
;
Jinhao LIAO
;
Hanhui FU
;
Hui PAN
;
Yuxiu LI
;
Jiangfeng MAO
;
Hongbo YANG
;
Huabing ZHANG
Author Information
1. 中国医学科学院北京协和医院内分泌科国家卫生健康委内分泌重点实验室,北京 100730
- Publication Type:Journal Article
- Keywords:
mitochondrial diabetes mellitus;
mitochondrial gene;
lactate exercise test
- From:
Medical Journal of Peking Union Medical College Hospital
2025;16(3):634-640
- CountryChina
- Language:Chinese
-
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.
