ESPE2022 Poster Category 1 Diabetes and Insulin (86 abstracts)
Introduction: non-insulin-dependent diabetes mellitus (type II) is an increasing problem in childhood. With the advancement of genetic testing and genome-wide association studies, mutations in genes causing loss or dysfunction of the pancreatic cell have been associated with type II diabetes. A heterozygous mutation of the MAPK8IP1 (Mitogen-activated protein kinase 8 interacting protein 1) gene is associated with a rare form of diabetes with few cases reported.
Objective: to increase awareness of type II diabetes due to a variant in the MAPK8IP1 gene.
Case: 14-year-old boy with insulin resistance developed type II diabetes due to a missense heterozygous variant in MAPK8IP1: (NM_005456.3): c.1895G>A (P.Gly632Glu), maternally inherited and responded to the administration of glucagon-like peptide 1(GLP-1) receptor agonist.
|Fasting glucose (mg/dl)||98||74||88||87||83||75||85||90.8||81.8|
|Oral glucose tolerance test (mg/dl)||122||152||124||104||228||80||119||101||104.7|
|Fasting insulin (uUl/ml)||91||41.8||28.8||43.3||18.9||43.5||25.7||22.1||20|
|Insulin levels 2 hours after glucose load (uUl/ml)||501||697||255||132||412||295||222||200||90|
|HbA1c test (%)||5.5||5.2||5.3||4.9||4.9||5.2|
|BMI (kg/m2) (Percentile, p%)||19.7; p75||20.5; p80||20.5; p76||20.1; p71||20.9; p61||20.1;p52||20.1;p50|
|Medications||Metformin 500 mg BID||Metformin 850 mg TID||Metformin 850 mg TID||Metformin 850 mg tid||Metformin changed for Liraglutide 1.8 mg per day||Liraglutide 1.8 mg per day||Liraglutide 1.8 mg per day||Liraglutide 1.8 mg per day||Liraglutide 1.8 mg per day|
Discussion: MAPK8IP1 encodes IB1, a regulator of the pancreatic beta-cell function, that is a DNA binding transactivator of the glucose transporter GLUT2, and a homologous of JIP (regulator of the c-Jun amino-terminal kinase), which plays an important role in cellular apoptosis and increased inflammatory response that causes type II diabetes. Administration of glucagon-like peptide 1 (GLP-1) receptor agonist improved glucose levels due to the positive effect on the pathogenic mechanisms.
Conclusion: Upon an uncommon presentation of type II diabetes, a molecular genetic test should be performed allowing early assessment and management of this condition.
15 Sep 2022 - 17 Sep 2022