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A glucokinase gene mutation in a young boy with diabetes mellitus, hyperinsulinemia, and insulin resistance

Authors Emelyanov AO, Sechko E, Koksharova E, Sklyanik I, Kuraeva T, Mayorov A, Peterkova V, Dedov I

Received 19 October 2016

Accepted for publication 12 December 2016

Published 7 March 2017 Volume 2017:10 Pages 77—80


Checked for plagiarism Yes

Review by Single-blind

Peer reviewer comments 2

Editor who approved publication: Professor Ronald Prineas

Andrey O Emelyanov,1 Elena Sechko,1 Ekaterina Koksharova,1 Igor Sklyanik,1 Tamara Kuraeva,1,2 Alexander Mayorov,1,2 Valentina Peterkova,1,2 Ivan Dedov1

1Endocrinology Research Centre, Moscow, Russian Federation; 2I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation

Abstract: We report the case of a 12-year-old boy with a glucokinase (GCK) mutation, and diabetes with hyperinsulinemia and insulin resistance. For 4 years, the patient intermittently received insulin medications Actrapid HM and Protaphane HM (total dose 5 U/day), with glycated hemoglobin (HbA1c) levels of 6.6%–7.0%. After extensive screening the patient was found to carry a heterozygous mutation (p.E256K) in GCK (MIM #138079, reference sequence NM_000162.3). Insulin therapy was replaced by metformin at 1,700 mg/day. One year later, his HbA1c level was 6.9%, postprandial glycemia at 120 min of oral glucose tolerance test was 15.4 mmol/L, hyperinsulinemia had increased to 508.9 mU/L, homeostasis model assessment index was 114.2 and the Matsuda index was 0.15. Insulin resistance was confirmed by a hyperinsulinemic euglycemic clamp test – M-index was 2.85 mg/kg/min. This observation is a rare case of one of the clinical variants of diabetes, which should be taken into account by a vigilant endocrinologist due to the need for nonstandard diagnostic and therapeutic approaches.

Keywords: case report, insulin resistance, diabetes mellitus, MODY2, child

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