title: Genetically Targeted Dipeptidyl Peptidase-4 Inhibitor Use in a Patient with a Novel Mutation of MODY type 4.
abstract: Maturity onset diabetes of the young (MODY) is a rare form of diabetes mellitus typically seen in young adults that results from pancreatic beta-cell dysfunction. MODY4 is a rare subtype caused by a PDX1 mutation. In this case, we present a nonobese 26-year-old male with polyuria and polydipsia. Lab work showed a blood glucose of 511 mg/dL, no ketones or antibodies (insulin, islet cell, and glutamic acid decarboxylase [GAD]), C-peptide of 1.6 ng/mL, and A1c 9.3%. Genetic analysis revealed a novel nonsense mutation in the PDX1 gene, consistent with MODY type 4. Given this patient's particular genetic mutation affecting the incretin pathway, sitagliptin was substituted for glyburide, which led to significant improvement in glycemic control. Our case report identifies a unique mutation in a rare form of MODY and outlines management of ensuing diabetes through targeting its inherent genetic mutation.
authors.affiliation: Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
authors.forename: Christian
authors.initials: C
authors.lastname: Mangrum
authors.affiliation: Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE, USA. ; Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.
authors.forename: Eric
authors.initials: E
authors.lastname: Rush
authors.affiliation: Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE, USA. ; VA Nebraska-Western Iowa Health Care System, University of Nebraska Medical Center, Omaha, NE, USA.
authors.forename: Vijay
authors.initials: V
authors.lastname: Shivaswamy
keywords: MODY; MODY4; diabetes; dipeptidyl peptidase-4 inhibitor; genetics