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Research & Reviews: A Journal of Bioinformatics

A Follow up Case Study of Neonatal Diabetes due to Mutation of ABCC 8 Gene: Transition from Insulin to Oral Glibenclamide was effective and safe

  1. Yong-Ju Kong
  2. Kang Yu
  3. Gwang-Ryong Pak
  4. Yong-Il Kim
  5. Ju-Ryong Sim
  6. Jong-Hui Jo

Abstract

Context: Neonatal diabetes is a rare condition occurring in approximately 1 in 500, 000 live births. It is occasionally due to mutations of genes which encode potassium ATP channel (KATP).Aim: The aim of this study is to identify the long term efficacy and safety of switch from insulin to oral sulfonylurea in a case of neonatal diabetes due to a mutation of ABCC 8 gene.Subject and Method: 6 years old female was diagnosed as a life threatening DKA in the 4th month of life and after genetic analysis identified a missense mutation (p. F577L) in her ABCC8 gene, we switched her insulin therapy to oral glibenclamide administration. Since then, we have observed her blood glucose control and general status for 6 years.Results: Her metabolic control has been good and the glibenclamide dose has been reduced from the initial dose of 1mg/kg/day to the current dose of 0.25mg/kg/day.Conclusion: Switch from insulin to oral glibenclamide in a case of neonatal diabetes due to an ABCC 8 gene mutation is effective and safe.

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