线粒体糖尿病患者三例及其家系的临床及基因检测分析

doi:10.12114/j.issn.1007-9572.2020.00.450

中国全科医学 ›› 2020, Vol. 23 ›› Issue (36): 4631-4635.DOI: 10.12114/j.issn.1007-9572.2020.00.450

线粒体糖尿病患者三例及其家系的临床及基因检测分析

张娜娜1，黄有烨2，王祺3，章秋1，胡红琳1*

1.230022安徽省合肥市，安徽医科大学第一附属医院内分泌科　2.241001安徽省芜湖市，皖南医学院第一附属医院内分泌科　3.237000安徽省六安市人民医院内分泌科
*通信作者：胡红琳，主任医师，硕士生导师，研究方向为内分泌与代谢病；E-mail：hhlin1994@sina.com

出版日期:2020-12-20 发布日期:2020-12-20
基金资助:
安徽省科技厅公益性联动基金（1704F0804026）；上海市糖尿病重点实验室开放课题资助（SHKLD-KF-1503）

Clinical and Pedigree-based Genetic Analysis of 3 Cases of Mitochondrial Diabetes Mellitus　

ZHANG Nana1，HUANG Youye2，WANG Qi3，ZHANG Qiu1，HU Honglin1*

1.Department of Endocrinology，the First Affiliated Hospital of Anhui Medical University，Hefei 230022，China
2.Department of Endocrinology，Yijishan Hospital of Wannan Medical College，Wuhu 241001，China
3.Department of Endocrinology，Lu'an People's Hospital，Lu'an 237000，China
*Corresponding author：HU Honglin，Chief physician，Master supervisor，Main research in endocrinology and metabolism；E-mail：hhlin1994@sina.com

Published:2020-12-20 Online:2020-12-20

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摘要/Abstract

摘要： 背景　线粒体糖尿病是一种特殊类型糖尿病，其早期临床表现不典型，易被误诊从而耽误治疗；基因检测是诊断线粒体糖尿病的主要手段，也是当前研究的热点。目的　对3例临床疑诊为线粒体糖尿病的患者及其家系成员进行线粒体基因测序，明确诊断，指导精准治疗。方法　选取2017—2019年在安徽医科大学第一附属医院及六安市人民医院内分泌科疑诊为线粒体糖尿病的3例患者，将3例先证者及7名家系成员纳入研究，分析其临床特征、实验室检查结果，并行线粒体基因测序。结果　3例疑诊患者及其部分家系成员基因测序结果显示存在线粒体tRNA 3243A→G点突变，明确诊断为线粒体糖尿病。对家系成员的分析显示部分成员存在该位点突变，已诊断为糖尿病，患者1家系成员基因检测显示其母亲、哥哥、女儿均为tRNA 3243A→G基因阳性者，其中1例虽有该基因突变，但目前尚未表现为糖尿病。结论　对于临床疑诊为线粒体糖尿病的患者应积极对患者及其家系成员进行基因检测，以求明确诊断及指导治疗。

关键词: 线粒体糖尿病, 听力障碍, tRNA A3243基因

Abstract: Background　Mitochondrial diabetes mellitus is a special type of diabetes mellitus.Due to atypical early clinical manifestations，it is easily misdiagnosed，delaying appropriate treatment.Gene detection is a focus in mitochondrial diabetes mellitus research as a major diagnostic means.Objective　To perform a mitochondrial gene sequencing in 3 clinically suspected mitochondrial diabetes mellitus patients and their family members to help to make a clear diagnosis and deliver precise treatment.Methods　Three suspected mitochondrial diabetes mellitus patients who were treated in Department of Endocrinology，the First Affiliated Hospital of Anhui Medical University and Lu'an People's Hospital between 2017 and 2019 and their 7 family members were enrolled.An analysis was performed on the clinical characteristics，laboratory and mitochondrial gene sequencing results of these patients and their family members.Results　A3243G mutation of the mitochondrial gene was found in the 3 suspected patients，and they were diagnosed with mitochondrial diabetes definitely.Some of their family members were also found to have A3243G mutation of the mitochondrial gene，including those with a previous diagnosis of diabetes.In particular，patient 1's mother，elder brother，and daughter had a presence of A3243G mutation of the mitochondrial tRNA gene，but her daughter had not have diabetic manifestations.Conclusion　Mitochondrial gene sequencing should be proactively performed in suspected mitochondrial diabetes mellitus patients and their family members in order to diagnose the disease and guide the treatment.

Key words: Mitochondrial diabetes mellitus, Hearing disorders, tRNA A3243 gene

张娜娜,黄有烨,王祺,等. 线粒体糖尿病患者三例及其家系的临床及基因检测分析[J]. 中国全科医学, 2020, 23(36): 4631-4635. DOI: 10.12114/j.issn.1007-9572.2020.00.450.
ZHANG Nana,HUANG Youye,WANG Qi, et al. Clinical and Pedigree-based Genetic Analysis of 3 Cases of Mitochondrial Diabetes Mellitus　[J]. Chinese General Practice, 2020, 23(36): 4631-4635. DOI: 10.12114/j.issn.1007-9572.2020.00.450.

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线粒体糖尿病患者三例及其家系的临床及基因检测分析

Clinical and Pedigree-based Genetic Analysis of 3 Cases of Mitochondrial Diabetes Mellitus

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