title: Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2.
abstract: Permanent neonatal diabetes (PND) is a rare form of diabetes characterized by insulin-requiring hyperglycemia diagnosed within the first three months of life. In most cases, the causes are not known. Recently, mutations in the KCNJ11 gene encoding the Kir6.2 subunit of the ATP-sensitive K+ channel have been described in patients with PND. We report the first two Korean cases with PND due to a lysineto- arginine substitution at position 170 (K179R) and a valine-to-methionine substitution at position 59 (V59M) mutations of KCNJ11 encoding Kir6.2, respectively. After several years of insulin therapy, these patients were managed by oral glibenclamide therapy at a daily dose of 0.8-0.9 mg/kg. Their basal c-peptide levels increased after one week of glibenclamide therapy, and one month later, the insulin and c-peptide levels were in the normal ranges without any episodes of hyper- or hypoglycemia. These cases demonstrate that oral sulfonylurea may be the treatment of choice in PND patients with KCNJ11 mutations even at a young age.
authors.affiliation: Department of Pediatrics, Chonbuk National University Medical School, Jeonju, Korea.
authors.forename: Min Sun
authors.initials: MS
authors.lastname: Kim
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Kim
authors.forename: Gu Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Han Wook
authors.initials: HW
authors.lastname: Yoo
authors.forename: Dong Whan
authors.initials: DW
authors.lastname: Lee
authors.forename: Dae Yeol
authors.initials: DY
authors.lastname: Lee
mesh_terms: D001483:Base Sequence; D002096:C-Peptide / Q000097:blood; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000097:blood / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D005905:Glyburide / Q000627:therapeutic use*; D006442:Glycated Hemoglobin / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007223:Infant; D007231:Infant, Newborn; D007328:Insulin / Q000097:blood / Q000627:therapeutic use*; D007723:Korea; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D013453:Sulfonylurea Compounds / Q000627:therapeutic use; D016896:Treatment Outcome; D000099161:Kcnj11 Channel
chemical_list: D002096:C-Peptide; D005905:Glyburide; D006442:Glycated Hemoglobin; D007004:Hypoglycemic Agents; D007328:Insulin; D024661:Potassium Channels, Inwardly Rectifying; D013453:Sulfonylurea Compounds; D000099161:Kcnj11 Channel