title: Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide.
abstract: Neonatal diabetes mellitus is rare, may either be transient or permanent, and may be caused by mutations in any of the several different genes. Until recently, most forms of permanent neonatal diabetes required lifelong subcutaneous insulin for management; however, permanent neonatal diabetes due to activating mutations in the KCNJ11 gene, which encodes the Kir6.2 protein subunit of the ATP-sensitive K+ (K(ATP)) channel, may be amenable to oral sulfonylurea therapy. We describe a case of an 18-month-old infant with permanent neonatal diabetes due to an activating KCNJ11 mutation successfully transitioned from subcutaneous insulin therapy to oral sulfonylurea therapy in the outpatient setting.
authors.affiliation: Division of Endocrinology, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817-2208, USA. andrew.bremer@ucdmc.ucdavis.edu
authors.forename: Andrew A
authors.initials: AA
authors.lastname: Bremer
authors.forename: Sayali
authors.initials: S
authors.lastname: Ranadive
authors.forename: Robert H
authors.initials: RH
authors.lastname: Lustig
mesh_terms: D001724:Birth Weight; D003920:Diabetes Mellitus / Q000188:drug therapy* / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000188:drug therapy / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000188:drug therapy / Q000235:genetics; D005260:Female; D005905:Glyburide / Q000627:therapeutic use*; D006801:Humans; D007004:Hypoglycemic Agents; D007223:Infant; D007228:Infant Nutrition Disorders / Q000188:drug therapy / Q000235:genetics*; D007231:Infant, Newborn; D007328:Insulin / Q000627:therapeutic use*; D009154:Mutation; D010045:Outpatients; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D000099161:Kcnj11 Channel
chemical_list: D005905:Glyburide; D007004:Hypoglycemic Agents; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel