A glucokinase gene mutation in a young boy with diabetes mellitus, hyperinsulinemia, and insulin resistance.
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) inGCK(MIM #138079, reference sequence NM_000162.3). Insulin therapy was replaced by metformin at 1,700 mg/day. One year later, his HbA1clevel 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.
Endocrinology Research Centre, Moscow, Russian Federation.
Andrey O
AO
Emelyanov
Endocrinology Research Centre, Moscow, Russian Federation.
Elena
E
Sechko
Endocrinology Research Centre, Moscow, Russian Federation.
Ekaterina
E
Koksharova
Endocrinology Research Centre, Moscow, Russian Federation.
Igor
I
Sklyanik
Endocrinology Research Centre, Moscow, Russian Federation; I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation.
Tamara
T
Kuraeva
Endocrinology Research Centre, Moscow, Russian Federation; I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation.
Alexander
A
Mayorov
Endocrinology Research Centre, Moscow, Russian Federation; I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation.
Valentina
V
Peterkova
Endocrinology Research Centre, Moscow, Russian Federation.
Ivan
I
Dedov
MODY2; case report; child; diabetes mellitus; insulin resistance