title: First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.
abstract: In this report, we present the first known case of intermediate developmental delay, epilepsy and permanent neonatal diabetes (DEND) syndrome caused by a Q52R mutation in the KCNJ11 gene who was successfully switched (at age 1.3 years) to sulphonylurea monotherapy, namely glibenclamide. The most recent evaluation, after 2 years, showed a glycated hemoglobin level of 6.0% (42 mmol/mol). This mutation is so severe that none of the previously reported four cases were able to switch from insulin to sulphonylurea monotherapy. The Q52R mutation seems to have a chance of positive response to glibenclamide administered every 3-6 h instead of the classical 8-12 h, in doses around or above 2.5 mg/kg/day.
authors.affiliation: "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.|"Elias" University Emergency Hospital, Bucharest, Romania.
authors.forename: Sorin
authors.initials: S
authors.lastname: Ioacara
authors.affiliation: Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
authors.forename: Sarah
authors.initials: S
authors.lastname: Flanagan
authors.affiliation: Department of Paediatrics, Medical University of Graz, Graz, Austria.
authors.forename: Elke
authors.initials: E
authors.lastname: Fröhlich-Reiterer
authors.affiliation: Columbia University, New York, USA.|Naomi Berrie Diabetes Center, New York, USA.
authors.forename: Robin
authors.initials: R
authors.lastname: Goland
authors.affiliation: "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.|"Elias" University Emergency Hospital, Bucharest, Romania.
authors.forename: Simona
authors.initials: S
authors.lastname: Fica
mesh_terms: D002658:Developmental Disabilities / Q000150:complications; D003920:Diabetes Mellitus / Q000188:drug therapy* / Q000235:genetics*; D004827:Epilepsy / Q000150:complications; D005905:Glyburide / Q000627:therapeutic use*; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use*; D007231:Infant, Newborn; D007328:Insulin / Q000627:therapeutic use*; D008297:Male; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D013453:Sulfonylurea Compounds / Q000627:therapeutic use*; D016896:Treatment Outcome; D000099161:Kcnj11 Channel
chemical_list: D005905:Glyburide; D007004:Hypoglycemic Agents; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel
keywords: Neonatal diabetes; Pediatric diabetes; Sulphonylurea