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Investigation of 3 Cases of Mitochondrial Diabetes Mellitus With Mitochondrial DNA 3243 (A-G) Mutation
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- Sanoyama Daisuke
- Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
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- Yamaguchi Yuji
- Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
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- Nagao Mototsugu
- Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
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- Nogami Akane
- Department of Neurological Science, Graduate School of Medicine, Nippon Medical School
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- Hattori Naomi
- Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
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- Inagaki Kyoko
- Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
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- Nakajima Yasushi
- Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
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- Oikawa Shinichi
- Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
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- Sugihara Hitoshi
- Department of Endocrinology, Diabetes and Metabolism, Graduate School of Medicine, Nippon Medical School
Bibliographic Information
- Other Title
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- ミトコンドリア糖尿病3症例の検討
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Description
Mitochondrial diabetes mellitus (MDM) presenting with a mitochondrial DNA 3243 (A-G) mutation is most frequently observed in patients with diabetes caused by a genetic defect. Clinical manifestations include short stature, the absence of obesity, young-onset, and the maternal inheritance of diabetes. MDM is strongly associated with neurosensory deafness, which is often overlooked during routine medical care. In this study, we reviewed three cases of MDM presenting with a mitochondrial DNA 3243 (A-G) mutation. All three patients had mild to severe neurosensory deafness. However, the clinical manifestations in these patients were not consistent, with ambiguity in regard to the maternal inheritance of diabetes in some and the absence of obesity. The clinical manifestations of MDM are varied; thus, a through examination, such as a mitochondrial DNA mutation test, seems desirable in cases where diabetes is complicated with neurosensory deafness or in which there is a family history of deafness.
Journal
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- Journal of the Japan Diabetes Society
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Journal of the Japan Diabetes Society 59 (6), 421-428, 2016
THE JAPAN DIABETES SOCIETY
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Keywords
Details 詳細情報について
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- CRID
- 1390001204907585920
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- NII Article ID
- 130005161063
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- ISSN
- 1881588X
- 0021437X
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- Text Lang
- ja
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- Data Source
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- JaLC
- CiNii Articles
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- Abstract License Flag
- Disallowed