ĐÁI THÁO ĐƯỜNG CÓ BIẾN THỂ GLY574SER CỦA GEN HNF1A MÃ HÓA CHO YẾU TỐ PHIÊN MÃ HNF-1A

Abstract

Maturity-onset diabetes of the young (MODY) is the most common form of monogenic diabetes, characterized by autosomal dominant inheritance, early onset, and absence of pancreatic autoantibodies. It is a rare condition with clinical features that often overlap with both type 1 and type 2 diabetes. With advances in genetic technology, 14 subtypes have been described, each differing in prevalence, complications, and treatment. Objectives: To describe the relationship between clinical presentation and the g.120999579A>G variant in the HNF1A gene. Subjects: A diabetes case diagnosed and treated at the National Children’s Hospital, Vietnam. Methods: Case report. Results: A 5-year-old obese girl presented with polyuria and polydipsia. Initial capillary blood glucose was 31 mmol/L, HbA1c was 11.6%, and C-peptide was 2.24 ng/mL. Blood gas analysis showed no acidosis, and urine ketones were 1+. Her mother had a history of type 2 diabetes diagnosed during pregnancy at age 33. After identifying the disease-causing genetic variant, the patient was planned for a transition from insulin to oral medication. Conclusion: This case highlights the importance of genetic testing in patients with a family history of diabetes and underlines the challenges in interpreting the clinical significance of genetic variants, particularly when the clinical presentation aligns with a form of monogenic diabetes.