m.3243A>G突变相关线粒体糖尿病1例并文献复习

doi:10.3969/j.issn.1004-583X.2024.02.012

摘要/Abstract

摘要：

目的探讨线粒体糖尿病(mitochondrial diabetes mellitus, MDM)治疗经验并进行总结分析。方法回顾性分析1例m.3243A>G突变相关MDM患者临床资料及诊疗过程,并复习相关文献。结果患者女,42岁,因血糖控制不佳及肢体麻木收入院,结合患者线粒体基因检测,予胰岛素联合恩格列净治疗,血糖控制好转,胰岛素用量减少。结论 MDM存在胰岛素抵抗,可联合钠葡萄糖共转运体-2抑制剂治疗,其潜在益处需做更全面的研究。

关键词: 线粒体, 糖尿病, 胰岛素抵抗, 基因突变

Abstract:

Objective To investigate the screening and treatment of mitochondrial diabetes mellitus (MDM). Methods In this retrospective analysis, the clinical data and treatment process of one patient with m.3243A>G mutation-related MDM were analyzed, and relevant literature was reviewed. Results The 42-year-old female patient was admitted to the hospital due to poor blood glucose control and limb numbness. Combined with testing for mitochondrial gene, the patient received insulin combined with empagliflozin. Blood glucose control was improved and insulin dosage was reduced. Conclusion MDM has insulin resistance.Insulin combined with with SGLT-2 inhibitors can be treated, and its potential benefits need more comprehensive research.

Key words: mitochondrial, diabetes mellitus, insulin resistance, gene mutation

中图分类号:

R587.1

吕莎莎, 宋金兰, 石健. m.3243A>G突变相关线粒体糖尿病1例并文献复习[J]. 临床荟萃, 2024, 39(2): 160-163.

Lv Shasha, Song Jinlan, Shi Jian. Mitochondrial mutation m.3243A> G associated with diabetes mellitus: One case report and literature review[J]. Clinical Focus, 2024, 39(2): 160-163.

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链接本文: https://huicui.hebmu.edu.cn/CN/10.3969/j.issn.1004-583X.2024.02.012

https://huicui.hebmu.edu.cn/CN/Y2024/V39/I2/160

图/表 3

表1 OGTT检查结果

Tab.1 Result of oral glucose tolerance test

项目	时间(h)
项目	0	0.5	1	2	3
血糖(mmol/L)	9.2	15.4	19.1	19.7	19.3
C肽(ng/ml)	0.62	0.97	1.18	1.86	2.10
胰岛素(μIU/ml)	26.41	30.91	32.79	33.59	34.78

图1 患者MDM基因检测结果

Fig.1 Report for genetic test in the patient with MDM

图2 患者MDM家谱图

Fig.2 Family diagram of MDM patient

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