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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
Article de En | WPRIM | ID: wpr-716847
Bibliothèque responsable: WPRO
ABSTRACT
Permanent 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.
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Texte intégral: 1 Indice: WPRIM Sujet Principal: Glycémie / Peptide C / ADN / Lymphocytes / Canaux potassiques / Dépistage génétique / Acidocétose diabétique / Diabète / Diagnostic / Insuline Type d'étude: Diagnostic_studies Limites du sujet: Child / Female / Humans / Infant / Newborn langue: En Texte intégral: Annals of Pediatric Endocrinology & Metabolism Année: 2018 Type: Article
Texte intégral: 1 Indice: WPRIM Sujet Principal: Glycémie / Peptide C / ADN / Lymphocytes / Canaux potassiques / Dépistage génétique / Acidocétose diabétique / Diabète / Diagnostic / Insuline Type d'étude: Diagnostic_studies Limites du sujet: Child / Female / Humans / Infant / Newborn langue: En Texte intégral: Annals of Pediatric Endocrinology & Metabolism Année: 2018 Type: Article