Open AccessA family in which people with a heterozygous ABCC8 gene mutation (p.Lys1385Gln) have progressed from hyperinsulinemic hypoglycemia to hyperglycemia
Author(s) -
Karatojima Mai,
Furuta Hiroto,
Matsutani Norihiko,
Matsuno Shohei,
Tamai Masanori,
Komiya Kei,
Morita Shuhei,
Uraki Shinsuke,
Doi Asako,
Furuta Machi,
Iwakura Hiroshi,
Ariyasu Hiroyuki,
Nishi Masahiro,
Akamizu Takashi
Publication year - 2020
Publication title -
journal of diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.949
H-Index - 43
eISSN - 1753-0407
pISSN - 1753-0393
DOI - 10.1111/1753-0407.12990
Subject(s) - hyperinsulinemic hypoglycemia , medicine , hypoglycemia , incretin , endocrinology , mutation , diabetes mellitus , gene mutation , gene , type 2 diabetes , genetics , biology
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.