A family in which people with a heterozygous ABCC8 gene mutation (p.Lys1385Gln) have progressed from hyperinsulinemic hypoglycemia to hyperglycemia
Mai Karatojima
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorCorresponding Author
Hiroto Furuta
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Correspondence
Hiroto Furuta First Department of Internal Medicine, Wakayama Medical University, 811-1 Kimiidera, Wakayama, Wakayama 641-8509, Japan.
Email: [email protected]
Search for more papers by this authorNorihiko Matsutani
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorShohei Matsuno
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorShuhei Morita
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorShinsuke Uraki
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorAsako Doi
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorMachi Furuta
Clinical Laboratory Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorHiroshi Iwakura
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorHiroyuki Ariyasu
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorMasahiro Nishi
Department of Clinical Nutrition and Metabolism, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorTakashi Akamizu
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorMai Karatojima
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorCorresponding Author
Hiroto Furuta
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Correspondence
Hiroto Furuta First Department of Internal Medicine, Wakayama Medical University, 811-1 Kimiidera, Wakayama, Wakayama 641-8509, Japan.
Email: [email protected]
Search for more papers by this authorNorihiko Matsutani
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorShohei Matsuno
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorShuhei Morita
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorShinsuke Uraki
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorAsako Doi
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorMachi Furuta
Clinical Laboratory Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorHiroshi Iwakura
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorHiroyuki Ariyasu
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorMasahiro Nishi
Department of Clinical Nutrition and Metabolism, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorTakashi Akamizu
First Department of Internal Medicine, Wakayama Medical University, Wakayama, Japan
Search for more papers by this authorFunding information: Japan Society for the Promotion of Science, Grant/Award Number: JP17K09842
Abstract
Highlights
- Inactivating mutations of the ABCC8 gene usually cause hyperinsulinemic hypoglycemia.
- We report a family in which people with the inactivating mutation have progressed hyperinsulinemic hypoglycemia to hyperglycemia.
- Treatment with incretin-related drugs might be a useful therapeutic approach to hyperglycemia in people with the inactivating mutation.
CONFLICT OF INTEREST
None declared.
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