| 马国翠,王珍珍,戴武,等.以糖尿病酮症就诊的线粒体糖尿病 1例并文献复习[J].安徽医药,2023,27(7):1377-1380. |
| 以糖尿病酮症就诊的线粒体糖尿病 1例并文献复习 |
| Mitochondrial diabetes mellitus treated with diabetic ketosis: case report and literature review |
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| DOI：10.3969/j.issn.1009-6469.2023.07.023 |
| 中文关键词: 线粒体疾病 糖尿病酮症酸中毒 线粒体糖尿病 基因检测 异质性 |
| 英文关键词: Mitochondrial diseases Diabetic ketoacidosis Mitochondrial diabetes mellitus(MDM) Genetic testing Heteroplasmy |
| 基金项目:合肥市卫生健康应用医学研究项目(合卫科教〔2019〕172号) |
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| 中文摘要: |
| 报道 1例入院时有糖尿病酮症，伴听力下降，体形瘦小的青年女性，有明显母系遗传家族史，病人病情重于其母亲。病人及母亲基因血液样本线粒体基因检测发现 NC_012920.1:m.A3243G突变，确诊线粒体糖尿病；其异质性变异频率分别为34.7%和 0.74%，异质性变异频率与发病严重程度相关。 |
| 英文摘要: |
| It was reported that one young woman with diabetes ketosis, hearing loss and small body size, had an obvious maternal genetic family history. The patient′s condition was more serious than that of her mother. NC_012920.1: m.A3243G mutation was found inmitochondrial gene detection of patient and mother′s blood samples, which was confirmed mitochondrial diabetes. The frequency of heterogeneity variation was 34.7% and 0.74% respectively, it suggests that the frequency of heterogeneity variation is related to the severity of the disease. |
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