Diabetes in an infant with cystic fibrosis

Area of Science:

• Pediatric Endocrinology
• Metabolic Disorders
• Genetic Diseases

Background:

• Cystic fibrosis (CF) is a genetic disorder affecting multiple organs, with CF-related diabetes mellitus (CFDM) being a known complication.
• CFDM is typically diagnosed later in childhood or adolescence and is associated with more severe CF phenotypes.
• The pathogenesis of CFDM involves both insulin deficiency and insulin resistance, often linked to pancreatic dysfunction.

Observation:

• This case report details an infant with cystic fibrosis who developed intermittent diabetes mellitus from infancy.
• The patient exhibited hyperglycemia exacerbated by steroid treatment and required insulin therapy, with low insulin responses to glucose challenges.
• Despite the diabetes, the patient's CF clinical and radiological status remained stable over a 9-year follow-up period.

Findings:

• The early onset of diabetes in this CF patient suggests it may be a co-morbid condition rather than solely a complication.
• Intermittent hyperglycemia without fasting hyperglycemia points to a unique diabetic profile in this pediatric case.
• Impaired beta-cell function, potentially genetically determined, is indicated by the low insulin response to glucose challenges.

Implications:

• This case challenges the traditional view of CFDM as solely a complication, proposing it can be a co-existing condition from early life.
• Early identification of hyperglycemia and beta-cell dysfunction in infants with CF is crucial for timely management.
• Genetic factors may play a significant role in the early development of diabetes in cystic fibrosis patients.