Journal of Interdisciplinary Genomics

유전의학융합회 (Interdisciplinary Society of Genetic & Genomic Medicine)
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Neonatal Diabetes Mellitus: A Focused Review on Beta Cell Function Abnormalities

  • Jung-Eun Moon (Department of Pediatrics, School of Medicine, Kyungpook National University Chilgok Hospital)
  • 투고 : 2024.10.15
  • 심사 : 2024.10.21
  • 발행 : 2024.10.31
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초록

Neonatal diabetes mellitus, or congenital diabetes mellitus, is a rare genetic disorder caused by abnormal β cell function and other causes. The symptoms of hyperglycemia that occur in neonatal diabetes. The symptoms of hyperglycemia that occur in neonatal diabetes may be transient or persistent. The most frequent genetic cause of neonatal diabetes characterized by abnormal β cell function is abnormalities at the 6q24 locus. Another possible cause is mutations in the ABCC8 or KCNJ11 genes, which code for potassium channels in pancreatic β cells. This underscores the importance of rapid genetic diagnosis following neonatal diabetes diagnosis and highlights the critical timing of sulfonylurea use.

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참고문헌

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