Hyperglycaemia and insulinopenia in a neonate with cystic fibrosis

Tania Siahanidou1, Helen Mandyla, Stavros Doudounakis

  • 1Neonatal Unit, First Department of Paediatrics, Athens University, "Aghia Sophia" Children's Hospital, Athens, Greece. siahanidou@hotmail.com

Insights

Abnormal glucose tolerance, a complication of cystic fibrosis (CF), can occur in newborns. This case highlights that CF-related diabetes mellitus (CFRD) and insulinopenia may be present from birth, suggesting earlier onset than previously recognized.

Area of Science:

  • Pediatric Endocrinology
  • Metabolic Disorders
  • Genetics

Background:

  • Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
  • Abnormal glucose tolerance, leading to CF-related diabetes mellitus (CFRD), is a known complication, typically diagnosed later in childhood.
  • The prevalence of CFRD in children under 10 years is less than 2%, with the youngest reported case at 6 months.

Observation:

  • A neonate diagnosed with CF presented with severe hyperglycemia, indicative of a diabetic range.
  • This neonate exhibited marked insulinopenia, a deficiency in insulin production.
  • The observed insulinopenia and impaired glucose tolerance persisted at 6 and 15 months of age.

Findings:

  • Insulinopenia is identified as the primary cause of abnormal glucose tolerance and CFRD.
  • This case demonstrates that CFRD and associated insulinopenia can manifest in the neonatal period, much earlier than previously documented.
  • The findings suggest that glucose intolerance may be a much earlier complication of CF than typically diagnosed.

Implications:

  • This case challenges the established timeline for CFRD development in cystic fibrosis patients.
  • It suggests that the incidence of glucose intolerance and diabetes in neonates and infants with CF may be significantly underestimated.
  • Further research and careful monitoring of glucose metabolism in infants with CF are warranted to understand the true prevalence and early management strategies for CFRD.
Abstract

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