title: Successful transition to sulfonylurea therapy in two Iraqi siblings with neonatal diabetes mellitus and iDEND syndrome due to ABCC8 mutation.
abstract: Neonatal diabetes is a rare form of monogenic diabetes characterised by persistent hyperglycaemia during the first 6-9 months of age. About half of the cases of neonatal diabetes are transient forms resulting from mutations in the genes in the imprinted region of chromosome 6q24 and the other half are permanent forms. Activating mutations in the potassium ATP (KATP) channels encoded by the genes KCNJ11 and ABCC8 are responsible for the majority of permanent neonatal diabetes mellitus (PNDM). Mutations in KATP channels can be associated with Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome. Intermediate DEND (iDEND) syndrome is a rare mild form of DEND syndrome. Successful transition from insulin to sulphonyl urea (SU) agents in patients with PNDM due to KCNJ11 mutations and in patients with intermediate DEND syndrome due to KCNJ11 mutation have been reported in the literature. To our knowledge, the successful transition of PNDM with DEND due to ABCC8 mutation has only been reported only once before in the literature. We report the successful transition from insulin to SU in two Iraqi siblings with PNDM due to ABCC8 mutation, one with iDEND.
authors.forename: Elif
authors.initials: E
authors.lastname: Ozsu
authors.forename: Dinesh
authors.initials: D
authors.lastname: Giri
authors.forename: Gulcan
authors.initials: G
authors.lastname: Seymen Karabulut
authors.forename: Senthil
authors.initials: S
authors.lastname: Senniappan
mesh_terms: D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics*; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D013453:Sulfonylurea Compounds / Q000627:therapeutic use*; D064233:Sulfonylurea Receptors / Q000235:genetics*; D013577:Syndrome
chemical_list: C577507:ABCC8 protein, human; D007004:Hypoglycemic Agents; D013453:Sulfonylurea Compounds; D064233:Sulfonylurea Receptors