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Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11

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dc.contributor.authorYoon, JS-
dc.contributor.authorPark, KJ-
dc.contributor.authorSohn, YB-
dc.contributor.authorLee, HS-
dc.contributor.authorHwang, JS-
dc.date.accessioned2019-11-13T00:20:17Z-
dc.date.available2019-11-13T00:20:17Z-
dc.date.issued2018-
dc.identifier.issn2287-1012-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/17230-
dc.description.abstractPermanent neonatal diabetes mellitus is most commonly caused by mutations in the ATP-sensitive potassium channel (KATP) subunits. Prompt initiation of sulfonylurea treatment can improve glycemic control in children with KCNJ11 mutation. In this report, we present a case of permanent neonatal diabetes caused by a mutation in the KCNJ11 gene that was successfully treated via early switching of insulin to sulfonylurea treatment. A 53-day-old female infant presented with diabetic ketoacidosis. Insulin was administered for the ketoacidosis and blood glucose regulation. At 3 months of age, using genomic DNA extracted from peripheral lymphocytes, direct sequencing of KCNJ11 identified a heterozygous mutation of c.158G>A (p.G53D) and confirmed the diagnosis of permanent neonatal diabetes mellitus. Subsequently, treatment with sulfonylurea was initiated, and the insulin dose was gradually tapered. At 4 months of age, insulin therapy was discontinued, and sulfonylurea (glimepiride, 0.75 mg/kg) was administered alone. At 6 months after initiation of administration of sulfonylurea monotherapy, blood glucose control was stable, and no hypoglycemic events or developmental delays were reported. C-peptide levels increased during treatment with sulfonylurea. Early switching to sulfonylurea in infants with permanent diabetes mellitus owing to a KCNJ11 mutation could successfully help regulate glycemic control, which suggests the need for early genetic testing in patients presenting with diabetes before 6 months of age.-
dc.formatapplication/pdf-
dc.language.isoen-
dc.titleSuccessful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11-
dc.typeArticle-
dc.identifier.pmid30286572-
dc.identifier.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177662/-
dc.subject.keywordDiabetes mellitus-
dc.subject.keywordKCNJ11 mutation-
dc.subject.keywordMutation-
dc.subject.keywordSulfonylurea-
dc.subject.keywordNeonate-
dc.contributor.affiliatedAuthor박, 규정-
dc.contributor.affiliatedAuthor손, 영배-
dc.contributor.affiliatedAuthor이, 해상-
dc.contributor.affiliatedAuthor황, 진순-
dc.type.localJournal Papers-
dc.identifier.doi10.6065/apem.2018.23.3.154-
dc.citation.titleAnnals of pediatric endocrinology & metabolism-
dc.citation.volume23-
dc.citation.number3-
dc.citation.date2018-
dc.citation.startPage154-
dc.citation.endPage157-
dc.identifier.bibliographicCitationAnnals of pediatric endocrinology & metabolism, 23(3). : 154-157, 2018-
dc.identifier.eissn2287-1292-
dc.relation.journalidJ022871012-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
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