title: Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1.
abstract: We report a 2 month male child presenting with diabetic ketoacidosis (DKA) and seizures treated with intravenous fluids and intravenous insulin infusion till the ketoacidosis was reversed, thereafter responding well to sulphonylureas and at age of 13 months going into complete remission. At age of 11 months developmental delay in the form of negative neck holding and inability to sit without support was seen. The child is 3 years of age now, euglycemic without any insulin or oral hypoglycemic agents but has severe developmental delay. Genetic analysis was negative for mutations of KCNJ11, 6q24, Glucokinase and IPF-1 genes. A mutation R1183W was found in the ABCC8 gene encoding SUR1, which was the cause of neonatal diabetes in this case.
authors.affiliation: Department of Endocrinology, Batra Hospital and Medical Research Centre, New Delhi, India
authors.forename: C M
authors.initials: CM
authors.lastname: Batra
authors.forename: Nomeeta
authors.initials: N
authors.lastname: Gupta
authors.forename: Gurdeep
authors.initials: G
authors.lastname: Atwal
authors.forename: Vimal
authors.initials: V
authors.lastname: Gupta
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000235:genetics*; D016883:Diabetic Ketoacidosis / Q000188:drug therapy* / Q000235:genetics*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use*; D007223:Infant; D007328:Insulin / Q000627:therapeutic use*; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D011955:Receptors, Drug / Q000235:genetics*; D013453:Sulfonylurea Compounds / Q000627:therapeutic use; D064233:Sulfonylurea Receptors
chemical_list: C577507:ABCC8 protein, human; D018528:ATP-Binding Cassette Transporters; D007004:Hypoglycemic Agents; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D013453:Sulfonylurea Compounds; D064233:Sulfonylurea Receptors