title: DEND syndrome due to V59A mutation in KCNJ11 gene: unresponsive to sulfonylureas.
abstract: Heterozygous activating mutations of KCNJ11 (Kir6.2) are the most common cause of permanent neonatal diabetes mellitus (NDM), and successful glycemic control has been obtained in several cases with oral sulfonylureas (SU). We have verified a lack of clinical response for both glycemic control and neurological features in an infant with permanent neonatal diabetes mellitus and DEND syndrome due to a V59A mutation in the KCNJ11 gene. Thus, our case reinforces that most cases with DEND syndrome are insensitive to SU.
authors: Department of Pediatrics, Tokyo Women's Medical University Medical Center East, Tokyo, Japan.
authors: Sachie
authors: S
authors: Itoh
authors: Hisafumi
authors: H
authors: Matsuoka
authors: Yuki
authors: Y
authors: Yasuda
authors: Nobuka
authors: N
authors: Miyake
authors: Keiko
authors: K
authors: Suzuki
authors: Tohru
authors: T
authors: Yorifuji
authors: Shigetaka
authors: S
authors: Sugihara
mesh_terms: D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics / Q000502:physiology; D003920:Diabetes Mellitus / Q000151:congenital / Q000188:drug therapy* / Q000235:genetics*; D004831:Epilepsies, Myoclonic / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007223:Infant; D020125:Mutation, Missense / Q000502:physiology; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D013453:Sulfonylurea Compounds / Q000627:therapeutic use*; D013577:Syndrome; D017211:Treatment Failure; D014633:Valine / Q000235:genetics; D000099161:Kcnj11 Channel
chemical_list: D000409:Alanine; D007004:Hypoglycemic Agents; D024661:Potassium Channels, Inwardly Rectifying; D013453:Sulfonylurea Compounds; D014633:Valine; D000099161:Kcnj11 Channel