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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 1,042 - 1,045 (4page)
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Permanent neonatal diabetes mellitus (PNDM) is caused by mutations in the ATP-sensitive potassium channel (KATP channel) subunits. Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome is the most severe form of PNDM and is characterized by various neurologic features. We report on a patient with DEND syndrome following initial misdiagnosis with type 1 DM, who was successfully switched from insulin to sulfonylurea therapy. A 50-day-old male presented with fever and seizure, complicated by persistent hyperglycemia. Insulin therapy was initiated. At 10 months of age, the patient was unable to hold his head up and make eye contact with others. At 17.9 years of age, direct sequencing of KCNJ11 identified a heterozygous mutation of c.602G>A (p.R201H). Since then, treatment with gliclazide was initiated and the insulin dose was gradually reduced. Following 3 months, insulin was discontinued with a gliclazide dose of 2.4 mg/kg. The patient continued to have excellent glycemic control with a glycated hemoglobin (HbA1c) level of 5.8% after 5 months. However, the patient's psychomotor retardation did not improve. This study reports the first case of DEND syndrome in Korea caused by a KCNJ11 mutation and emphasizes the necessity to screen mutations in KATP channel genes in patients with neonatal diabetes.
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참고문헌 (14)
참고문헌 신청
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
Thomas PM / 1995 / Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy / Science 268:426~429
Nestorowicz A / 1997 / A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with fa milial hyperinsulinism / Diabetes 46:1743~1748
Gloyn AL / 2004 / Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2and permanent neonatal diabetes / N Engl J Med 350:1838~1849
Shimomura K / 2007 / A novel mutation causing DEND syndrome:a treatable channelopathy of pancreas and brain / Neurology 69:1342~1349
Thomas PM / 1995 / Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy / Science 268:426~429
Nestorowicz A / 1997 / A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with fa milial hyperinsulinism / Diabetes 46:1743~1748
Gloyn AL / 2004 / Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2and permanent neonatal diabetes / N Engl J Med 350:1838~1849
Shimomura K / 2007 / A novel mutation causing DEND syndrome:a treatable channelopathy of pancreas and brain / Neurology 69:1342~1349
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