Monogenic diabetes results from specific genetic mutations that result in diabetes mellitus. Clinical phenotypes differ based on the genetic defect, and treatment options are driven by the underlying genetic cause. Thus, accurate genetic diagnosis and evaluation of response to treatment is essential. Retrospective chart review was utilized to identify patients with MODY at a single institution who had confirmed genetic mutations. Demographics, co-morbidities, initial islet cell autoantibodies, diagnosis and treatment, and current treatments were evaluated. Patients diagnosed with MODY (n=92) comprised of 3% of the total patient population diagnosed with diabetes (78% T1DM, 19% T2DM) between 2000 to present day. For patients with MODY, the average age of diabetes diagnosis was 10.3 years and their mean HgbA1c was 8.0% at diagnosis. Three and a half percent of patients with MODY had ketoacidosis at diagnosis and 6.7% had positive islet cell autoantibodies. Among patients with MODY, the most common gene mutations were HNF1A, GCK, and HNF1B. Novel genetic mutations in PDX1, RFX6, BLK and KFL11 were also identified. Current treatment modalities of patients with MODY were compared (insulin, Metformin, Sulfonylureas, Metformin-Glyburide, insulin-Metformin, GLP-1 receptor agonists). For each medication, reduction in HgbA1c was seen at follow-up (0.05-1.15% reduction). All medications except for insulin and Metformin-Glyburide demonstrated a reduction in BMI at follow-up. The greatest reduction in BMI was observed in patients on GLP-1 receptor agonists and insulin-Metformin (3.3% and 8.89% respectively). Our study highlights the importance of genetic testing in patients who present with diabetes without ketoacidosis and that testing positive for islet antibodies does not preclude patients from a MODY diagnosis. Moreover, future investigation of GLP-1 receptor agonist as a treatment for MODY patients is warranted.
L.Deng: None. A.S.Shah: None. M.Krishnamurthy: None.
