Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a new KCNJ11 mutation.
Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes. We describe a female neonate who is a heterozygous for a new missense mutation, V252L, in the KCNJ11 gene and who has been successfully transitioned from insulin to sulfonylurea therapy.
Department of Neonatology, University Children's Hospital, Tiršova 10, Belgrade, Serbia. milos.jesic@udk.bg.ac.rs
Miloš M
MM
Ješić
Maja D
MD
Ješić
Svjetlana
S
Maglajlić
Silvija
S
Sajić
Svetislav
S
Necić
D003920:Diabetes Mellitus / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D005905:Glyburide / Q000009:adverse effects / Q000627:therapeutic use; D006579:Heterozygote; D006801:Humans; D007004:Hypoglycemic Agents / Q000009:adverse effects / Q000627:therapeutic use*; D007231:Infant, Newborn; D020125:Mutation, Missense; D024661:Potassium Channels, Inwardly Rectifying / Q000737:chemistry / Q000235:genetics*; D013453:Sulfonylurea Compounds / Q000009:adverse effects / Q000627:therapeutic use*; D016896:Treatment Outcome; D000099161:Kcnj11 Channel
D005905:Glyburide; D007004:Hypoglycemic Agents; D024661:Potassium Channels, Inwardly Rectifying; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel