지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 94 - 98 (5page)
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초록· 키워드
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Neonatal diabetes mellitus (NDM) is a rare disease that occurs at less than 6 months of age and is presumably caused by a mutation in the gene that affects pancreatic beta-cell function. Approximately 80% of NDM cases reveal a known genetic mutation, and mutations in potassium inwardly rectifying channel subfamily J member 11 (KCNJ11) and ABCC8 affecting the pancreatic beta-cell adenosine triphosphate-sensitive potassium channel may be treated with oral sulfonylurea. Early recognition of mutations in KCNJ11 and ABCC8 is important because early administration of sulfonylurea can not only control blood glucose levels but also improve neurodevelopmental outcomes. In the present study, we report a case of NDM that initially presented as diabetic ketoacidosis at the age of 1 month, accompanied by seizures during hospitalization. After confirmation of the KCNJ11 gene mutation (c.989A>C), we started administering oral sulfonylurea (glimepiride) at the age of 2 months. After gradually increasing the dosage of glimepiride, insulin was discontinued at the age of 3 months. To date, the infant’s blood glucose levels have been well controlled without significant hypoglycemic events. No further episodes of seizures have occurred, and his developmental status is favorable.
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등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Letourneau LR / 2017 / Diabetes presentation in infancy : high risk of diabetic ketoacidosis / Diabetes Care 40:e147~e148
Nansseu JR / 2016 / Incidence, prevalence and genetic determinants of neonatal diabetes mellitus: a systematic review and meta-analysis protocol / Syst Rev 5:188
De Franco E / 2015 / The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study / Lancet 386:957~963
Shah RP / 2012 / 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 35:2086~2088
Bowman P / 2018 / Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11mutations : an international cohort study / Lancet Diabetes Endocrinol 6:637~646
Nansseu JR / 2016 / Incidence, prevalence and genetic determinants of neonatal diabetes mellitus: a systematic review and meta-analysis protocol / Syst Rev 5:188
De Franco E / 2015 / The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study / Lancet 386:957~963
Shah RP / 2012 / 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 35:2086~2088
Bowman P / 2018 / Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11mutations : an international cohort study / Lancet Diabetes Endocrinol 6:637~646
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