Phenotype, genotype and glycaemic variability in people with activating mutations in the ABCC 8 gene: response to appropriate therapy

Activating mutations in ABCC8 are a rare cause of diabetes mellitus that manifests first in adolescence and early adulthood, with phenotype variability among family members. We report on the successful switch to sulfonylureas after chronic insulin use in participants with activating mutations in ABCC8 . The individuals in our study cohort presented with dramatic hyperglycaemia with classic symptoms of diabetes. Diabetic retinopathy was the most common complication in the cohort. Early genetic confirmation of ABCC8‐maturity‐onset diabetes of the young (MODY) and appropriate sulfonylurea therapy would reduce episodes of hypoglycaemia and is likely to reduce diabetes complications. The study emphasizes the importance of the genetic characterization of ABCC8‐MODY to guide personalized treatment.