Co-occurrence of Type 1 Diabetes, Celiac Disease, and Genetically Confirmed Cystic Fibrosis in an Adolescent: A Case Report
DOI:
https://doi.org/10.52340/GBMN.2026.01.01.186Keywords:
Adolescent, Celiac Disease, Cystic Fibrosis, Diagnostic Challenge, Pancreatic Exocrine Insufficiency, Type 1 Diabetes MellitusAbstract
The coexistence of type 1 diabetes mellitus (T1DM), celiac disease (CD), and cystic fibrosis (CF) is exceptionally rare in pediatric patients. We report the case of a 16-year-old girl diagnosed with T1DM at the age of 2 years and CD at 6 years through routine screening. Despite regular multidisciplinary follow-up and appropriate management, persistent gastrointestinal symptoms continued for several years. At the age of 13 years, borderline sweat chloride levels together with severe pancreatic exocrine insufficiency prompted genetic testing, which confirmed cystic fibrosis. The overlapping gastrointestinal manifestations of celiac disease and cystic fibrosis may have contributed to a prolonged interval between the diagnosis of celiac disease and the eventual recognition of genetically confirmed cystic fibrosis. Pancreatic enzyme replacement therapy resulted in partial clinical improvement. This case illustrates the diagnostic challenges created by overlapping gastrointestinal manifestations in children with multiple chronic disorders. Although the coexistence of type 1 diabetes mellitus, celiac disease, and cystic fibrosis has been previously reported, detailed pediatric case reports emphasizing delayed recognition of genetically confirmed cystic fibrosis remain scarce in the literature.References
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