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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Permanent neonatal diabetes mellitus is most commonly caused by mutations in the ATP-sensitive potassium channel (K ATP ) 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.
Abstract
Permanent neonatal diabetes mellitus is most commonly caused by mutations in the ATP-sensitive potassium channel (K ATP ) 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.
참고문헌 (19)
- Naylor RN, "Genetics and pathophysiology of neonatal diabetes mellitus", J Diabetes Investig, 2, pp.158~169 (2011)[DOI]
- Gloyn AL, "Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes", N Engl J Med, 350, pp.1838~1849 (2004)[DOI]
- Pearson ER, "Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations", N Engl J Med, 355, pp.467~477 (2006)[DOI]
- 안성연, "Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation", Clinical and Experimental Pediatrics, 58(8), pp.309~312 (2015), 대한소아청소년과학회
- 조자향, "DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea", Journal of Korean Medical Science, 32(6), pp.1042~1045 (2017), 대한의학회
- 김민선, "Sulfonylurea Therapy in Two Korean Patients with Insulin-treatedNeonatal Diabetes due to Heterozygous Mutations of the KCNJ11Gene Encoding Kir6.2", Journal of Korean Medical Science, 22(4), pp.616~620 (2007), 대한의학회
- Heo JW, "Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report", Diabetes Res Clin Pract, 100, pp.e1~e2 (2013)[DOI]
- Koster JC, "The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy", J Clin Endocrinol Metab, 93, pp.1054~1061 (2008)[DOI]
- Arce KM, "Not all diabetes in infants is type 1: a case report", Diabetes Ther, 7, pp.369~375 (2016)[DOI]
- Ioacara S, "First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment", J Diabetes Investig, 8, pp.716~719 (2017)[DOI]
- Marshall BA, "Remission of severe neonatal diabetes with very early sulfonylurea treatment", Diabetes Care, 38, pp.e38~e39 (2015)[DOI]
- Remedi MS, "Acute sulfonylurea therapy at disease onset can cause permanent remission of KATP-induced diabetes", Diabetes, 60, pp.2515~2522 (2011)[DOI]
- Slingerland AS, "Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation", Diabet Med, 25, pp.277~281 (2008)[DOI]
- Shah RP, "Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas", Diabetes Care, 35, pp.2086~2088 (2012)[DOI]
- Sola D, "Sulfonylureas and their use in clinical practice", Arch Med Sci, 11, pp.840~848 (2015)
- Pantalone KM, "Increase in overall mortality risk in patients with type 2 diabetes receiving glipizide, glyburide or glimepiride monotherapy versus metformin: a retrospective analysis", Diabetes Obes Metab, 14, pp.803~809 (2012)[DOI]
- Codner E, "High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation", Diabetes Care, 28, pp.758~759 (2005)[DOI]
- Kumaraguru J, "Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect", Diabetes Care, 32, pp.1428~1430 (2009)[DOI]
- Flanagan SE, "Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype", Diabetologia, 49, pp.1190~1197 (2006)[DOI]