Journal of the Pancreas Open Access

  • ISSN: 1590-8577
  • Journal h-index: 82
  • Journal CiteScore: 35.06
  • Journal Impact Factor: 24.75
  • Average acceptance to publication time (5-7 days)
  • Average article processing time (30-45 days) Less than 5 volumes 30 days
    8 - 9 volumes 40 days
    10 and more volumes 45 days

Abstract

Permanent Neonatal Diabetes Mellitus Due to an ABCC8 Mutation: A Case Report

Nithya Abraham, Anish Ahamed, Ambika Gopalakrishnan Unnikrishnan, Harish Kumar, Sian Ellard

Context Neonatal diabetes is a rare disorder with an incidence of about 1 in 100,000 live births. It is defined as diabetesdiagnosed in the first 6 months of life and it is vital to differentiate this entity from type 1 diabetes to enable accuratediagnosis, prognosis, genetic counseling and treatment. Case report We describe a case of permanent neonatal diabetesmellitus due to a novel mutation affecting the ABCC8 gene that encodes the SUR1 subunit of potassium ATP channel (KATP).Conclusion This genetic diagnosis has therapeutic implications as patients can switch from insulin therapy to sulphonylurea,as described in this case report.