Celiac Disease in Patients With Cystic Fibrosis on Ivacaftor: A Case Series

J Pediatr Gastroenterol Nutr. 2020 Aug;71(2):257-260. doi: 10.1097/MPG.0000000000002736.

Abstract

Cystic fibrosis transmembrane conductance regulator (CFTR) protein modulators have revolutionized care for individuals with cystic fibrosis (CF) with positive effects on the gastrointestinal (GI) tract. There is emerging evidence linking CFTR dysfunction to celiac disease (CD). We present 3 cases of patients with CF, genotype F508del/G551D, treated with CFTR modulator, ivacaftor, and diagnosed with CD. These patients tested for CD because they had persistent GI symptoms that had partially improved with ivacaftor. This case series highlights the importance of a better understanding of how CFTR modulators impact the GI tract, their possible link to CD, and the importance of considering CD when evaluating GI symptoms in individuals with CF.

MeSH terms

  • Aminophenols / therapeutic use
  • Benzodioxoles
  • Celiac Disease* / complications
  • Celiac Disease* / diagnosis
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Cystic Fibrosis* / complications
  • Cystic Fibrosis* / drug therapy
  • Cystic Fibrosis* / genetics
  • Humans
  • Mutation
  • Quinolones

Substances

  • Aminophenols
  • Benzodioxoles
  • Quinolones
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • ivacaftor