title: [Diabetes in infants may be treated with sulfonylurea as a replacement for insulin].
abstract: A two-month-old Danish girl was admitted to the hospital in diabetic ketoacidosis and diagnosed with permanent neonatal diabetes mellitus (PNDM). She received continuous insulin treatment until she was genetically tested at the Steno Diabetes Centre. She carried a KCNJ11 Arg201His mutation, an activating mutation in the KCNJ11-gene which encodes the ATP-sensitive potassium subunit Kir6.2 in the beta cell which is responsible for insulin secretion. As recommended in the literature, she was successfully shifted from insulin therapy to sulfonylurea tablets at the age of three years and nine months. PNDM-patients should be screened for gene mutations regardless of current age.
authors.affiliation: Regionshospitalet Viborg, Børneafdelingen. lauridsen.mette@gmail.com
authors.forename: Mette Høj
authors.initials: MH
authors.lastname: Lauridsen
authors.forename: Trine Welløv
authors.initials: TW
authors.lastname: Boesgaard
authors.forename: Oluf Borbye
authors.initials: OB
authors.lastname: Pedersen
authors.forename: Torben
authors.initials: T
authors.lastname: Hansen
authors.forename: Birgitte
authors.initials: B
authors.lastname: Hertz
mesh_terms: D002675:Child, Preschool; D003922:Diabetes Mellitus, Type 1 / Q000188:drug therapy* / Q000235:genetics; D016883:Diabetic Ketoacidosis / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D005905:Glyburide / Q000627:therapeutic use*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use*; D007223:Infant; D007328:Insulin / Q000627:therapeutic use; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D016896:Treatment Outcome; D000099161:Kcnj11 Channel
chemical_list: D005905:Glyburide; D007004:Hypoglycemic Agents; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel