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

Authors

  • Yong-Ju Kong Pyongyang University of Medical Sciences
  • Kang Yu Pyongyang University of Medical Sciences
  • Gwang-Ryong Pak Pyongyang University of Medical Sciences
  • Yong-Il Kim Pyongyang University of Medical Sciences
  • Ju-Ryong Sim Pyongyang University of Medical Sciences
  • Jong-Hui Jo Pyongyang University of Medical Sciences

DOI:

https://doi.org/10.37591/(rrjobi).v9i3.1379

Keywords:

neonatal diabetes, sulfonylurea, switch, ABCC 8, mutation

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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Published

2023-04-07

Issue

Vol. 9 No. 3 (2022)

Section

Case Study

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