14-Year Follow-up of a MODY3 Patient with HNF1A/P291fsinsC
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- Mori Yukiko
- Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
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- Yagi Kunimasa
- Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
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- Koizumi Junji
- Department of General Medicine, Kanazawa University Graduate School of Medical Science
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- Matsumoto Yuki
- Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
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- Fujimoto Aya
- Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
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- Obatake Azusa
- Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
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- Okazaki Satoko
- Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
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- Ito Naoko
- Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
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- Kubota Miyuki
- Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
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- Nakano Kaoru
- Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
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- Yamaaki Naoto
- Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
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- Takeda Yosiyu
- Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
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- Yamagishi Masakazu
- Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
Bibliographic Information
- Other Title
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- 境界型の時期から10年以上の臨床経過を追えたcommon mutation(HNF1A/P291fsinsC)を有するMODY3の1例
- 症例報告 境界型の時期から10年以上の臨床経過を追えたcommon mutation (HNF1A/P291fsinsC)を有するMODY3の1例
- ショウレイ ホウコク キョウカイガタ ノ ジキ カラ 10ネン イジョウ ノ リンショウ ケイカ オ オエタ common mutation (HNF1A/P291fsinsC)オ ユウスル MODY3 ノ 1レイ
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Abstract
A 27-year-old woman, who presented with glycosuria at the age of 12, had shown impaired glucose tolerance with decreased insulin secretion on 75 gOGTT at the age of 13. She had a family history of diabetes from both her father and paternal grandmother. She had developed diabetes mellitus and was diagnosed as having MODY3 with HNF1A/P291fsinsC mutation at the age of 14. She had been treated with diet modification until the age of 27 when she was admitted to our department because of an elevated HbA1c level of 6.5 %. She showed a decrease in CPR response (ΔCPR from 0.8 ng/ml to 1.8 ng/ml) on glucagon loading and showed a marked elevation of glucagon response (IRG from 133 pg/ml to 600 pg/ml) on arginine loading. Due to these results, insulin treatment was initiated. In addition, no diabetic complications have been detected until now. This report discusses the variance of clinical features in patients with the same MODY3 mutation. The clinical characteristics of MODY3 with HNF1A/P291fsinsC in our case are relatively milder over more than ten years of diabetes than those reported in the literature.<br>
Journal
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- Journal of the Japan Diabetes Society
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Journal of the Japan Diabetes Society 55 (8), 632-637, 2012
THE JAPAN DIABETES SOCIETY
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Details 詳細情報について
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- CRID
- 1390001204908972288
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- NII Article ID
- 10031123019
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- NII Book ID
- AN00166576
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- ISSN
- 1881588X
- 0021437X
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- NDL BIB ID
- 023965513
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- Text Lang
- ja
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- Data Source
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- JaLC
- NDL
- CiNii Articles
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- Abstract License Flag
- Disallowed