Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11.
10.6065/apem.2018.23.3.154
- Author:
Jong Seo YOON
1
;
Kyu Jung PARK
;
Young Bae SOHN
;
Hae Sang LEE
;
Jin Soon HWANG
Author Information
1. Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea. seaon98@ajoumc.or.kr
- Publication Type:Case Report
- Keywords:
Neonate;
Diabetes mellitus;
Mutation;
KCNJ11 mutation;
Sulfonylurea
- MeSH:
Blood Glucose;
C-Peptide;
Child;
Diabetes Mellitus;
Diabetic Ketoacidosis;
Diagnosis;
DNA;
Female;
Genetic Testing;
Humans;
Infant*;
Infant, Newborn;
Insulin*;
Ketosis;
Lymphocytes;
Potassium Channels
- From:Annals of Pediatric Endocrinology & Metabolism
2018;23(3):154-157
- CountryRepublic of Korea
- Language:English
-
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.
