ESPE Abstracts

Introduction: Mutations of the GKN gene are the most common cause of Mody diabetes. MODY II typically results in mildly elevated fasting blood sugar, without noticeable diabetes, maintaining good metabolic control without treatment.

Clinical case: A 4.5 years old female infant, was referred due to presenting polyuria, polydipsia and fasting hyperglycemia of 126–130 mg/dl and 2 hours post-intake blood glucose level of 150–220 mg/dl. She was born by normal delivery and was symmetrical IUGR, her weight and height in the 25th percentile.

Family history: Her mother was diagnosed with gestational diabetes, controlled by diet. One year later, she was diagnosed with Type I Diabetes requiring insulin treatment. Maternal grandmother was diagnosed with Type II Diabetes requiring at the beginning oral antidiabetics.

Laboratory work: - Fasting glucose level: 121 and 130 mg/dl, Insulin level: 3.8 mUI/ml, C-Peptide: 0.4 ng/ml, Hemoglobin A1C level: 6.2%. - thyroid hormones were normal and Thyroid antibodies negative; - GOTT: basal glycaemia 99 mg/dl, after 2 hours: 220 mg/dl. - Negative diabetes antibodies (Anti-GAD, Islet, insulin autoantibodies). - Inmunoglobulin A <5 mg/dl and IgG& IgM: normal. - Coeliac blood test: negative. - Urine test: Negative microalbuminuria. Not glucosuria. - HLA typing test: Not compatible with Type I Diabetes. - Mody Molecular Study II: Negative sequencing of exons 1 to 10 as well as flanking zones of the GCK gene.

Evolution: Treatment with diet was performed. At the first year of evolution she presented with clinical signs of polyuria, polydipsia, fasting and post-intake hyperglycemia greater than 250 mg/dl with HbA1C of 7.2%, following which she started treatment with a low dose of glargine insulin (3 units daily) and immediately her glycaemia normalized and clinical symptoms disappeared,

Conclusions: MODY Diabetes does not usually require treatment, however its clinical spectrum overlaps with features of both type 1 and type 2 diabetes, thus presenting a diagnostic challenge. The clinical symptoms in our patient are justified due to suffering deletion in all exons from 1 to 10. Early diagnosis is important to remove insulin treatment and to administer the most appropriate type of therapy. Nevertheless, the fundamental goal is a clinical and personalized follow-up of the patient.