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

森 由紀子; 八木 邦公; 小泉 順二; 松本 裕幹; 藤本 彩; 大畠 梓; 岡崎 智子; 伊藤 直子; 窪田 美幸; 中野 薫; 山秋 直人; 武田 仁勇; 山岸 正和

doi:10.11213/tonyobyo.55.632

Case Report

14-Year Follow-up of a MODY3 Patient with HNF1A/P291fsinsC

Yukiko Mori, Kunimasa Yagi, Junji Koizumi, Yuki Matsumoto, Aya Fujimoto, Azusa Obatake, Satoko Okazaki, Naoko Ito, Miyuki Kubota, Kaoru Nakano, Naoto Yamaaki, Yosiyu Takeda, Masakazu Yamagishi

Author information

Yukiko Mori
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
Kunimasa Yagi
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
Junji Koizumi
Department of General Medicine, Kanazawa University Graduate School of Medical Science
Yuki Matsumoto
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
Aya Fujimoto
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
Azusa Obatake
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
Satoko Okazaki
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
Naoko Ito
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
Miyuki Kubota
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
Kaoru Nakano
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
Naoto Yamaaki
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
Yosiyu Takeda
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science
Masakazu Yamagishi
Department of Internal Medicine, Kanazawa University Graduate School of Medical Science

JOURNAL FREE ACCESS

2012 Volume 55 Issue 8 Pages 632-637

DOI https://doi.org/10.11213/tonyobyo.55.632

Details

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.

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