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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제23권 제3호
- 발행연도
- 2018.1
- 수록면
- 154 - 157 (4page)
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초록· 키워드
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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.
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참고문헌 (19)
참고문헌 신청
Naylor RN / 2011 / Genetics and pathophysiology of neonatal diabetes mellitus / J Diabetes Investig 2:158~169
Gloyn AL / 2004 / Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes / N Engl J Med 350:1838~1849
Pearson ER / 2006 / Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations / N Engl J Med 355:467~477
안성연 / 2015 / Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation / Korean Journal of Pediatrics 58(8):309~312
조자향 / 2017 / DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea / Journal of Korean Medical Science 32(6):1042~1045
Gloyn AL / 2004 / Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes / N Engl J Med 350:1838~1849
Pearson ER / 2006 / Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations / N Engl J Med 355:467~477
안성연 / 2015 / Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation / Korean Journal of Pediatrics 58(8):309~312
조자향 / 2017 / DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea / Journal of Korean Medical Science 32(6):1042~1045
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