Đái tháo đường khởi phát ở người trẻ tuổi thể 12 (MODY12): Đặc điểm lâm sàng và điều trị

Abstract

Maturity-Onset Diabetes of the Young (MODY) is a monogenic form of diabetes caused by beta-cell dysfunction, inherited in an autosomal dominant pattern. Fourteen MODY subtypes (MODY1–14) have been identified, each with distinct clinical features and management strategies. We report a case of MODY12 due to a heterozygous pathogenic variant c.3544C>T (p.Arg1182Trp) in the ABCC8 gene, which encodes the SUR1 subunit of the pancreatic K_ATP channel. A 14-year-old boy was admitted with polyuria, polydipsia, and weight loss. Laboratory tests showed fasting plasma glucose of 14.6 mmol/L, HbA1c of 14.2%, C-peptide 1.04 ng/mL, insulin 3.75 mU/L, and positive urine ketones (++). His mother was diagnosed with type 1 diabetes at age 15, and his maternal grandmother had diabetes diagnosed at age 60, currently treated with insulin. Following genetic confirmation of the ABCC8 variant, insulin therapy was successfully switched to oral sulfonylurea within three days. This case highlights the importance of genetic testing for MODY in individuals with a multi-generational family history of diabetes and clinical features atypical for either type 1 or type 2 diabetes, enabling optimized treatment and avoidance of unnecessary insulin therapy.