IMPE Abstracts

Introduction: MODY is a heterogeneous group of monogenic disorders that occurs due to β cell dysfunction. The estimated MODY prevalence is around 1–5% of all diabetes mellitus cases, but it varies depending on the population studied. MODY2 is caused by heterozygous inactivating mutations in the glucokinase (GCK) gene loci 7p13. That result in persistent, stable and mild fasting hyperglycemia, glycosylated hemoglobin alterations. Patients with GCK mutations usually do not require any drug treatment, except during pregnancy. The GCK gene is considered to be responsible for about 20% of all MODY cases. The clinical manifestation of GCK-MODY is generally non progressive, usually asymptomatic in childhood. The elevated glucose level is present from birth, therefore it is mostly detected incidentally. Performing an oral glucose tolerance test (OGTT) can help to distinguish GCK-MODY patients from other types of MODY as in the case of GCK-MODY.

Clinical Case: A 5 Years old male, second child, without consanguinity, 39 wks. gestational age, Birth weight of 3200 kg, length birth of 51 cm, gestational diabetes, no hypoglycemia, without polyuria or polydipsia, occasional fasting glucose of 105, Hba1c 6.4%, older sister and grandfather with Diabetes type Mody. Due to family history, diabetes was suspected. The Genetic study reported a pathological variant similar to that of the sister in the GCK gene c.1019G>A (p.Ser340ASN).

Conclusion: The different alterations of the gene generate a variable enzymatic activity conditioning a heterogeneous clinical presentation. We would like to emphasize once again the importance of having a proper molecular genetic diagnosis, as this can lead to a major improvement in the patients’ quality of life by stopping their drug treatment.