Abstract
Background: Cystic fibrosis is a common cause of pancreatic exocrine
insufficiency. Clinically pancreatic insufficiency is treated as a
permanent problem. However, new cystic fibrosis transmembrane
conductance regulator (CFTR) protein modulator therapies, like
ivacaftor, can change pancreatic function in children. Also, children
with residual CFTR function mutations may be pancreatic insufficient in
infancy and spontaneously become pancreatic sufficient. Aims: To
evaluate the benefit of reviewing pancreatic function, testing and
diagnosis, of a cohort and repeat testing to patients with the potential
to change function. Methods: all children with cystic fibrosis managed
at Perth Children’s Hospital at the end of 2019 were reviewed for
pancreatic function testing at diagnosis, genotype and current modulator
and pancreatic enzyme replacement therapy use. Children with the
potential to change pancreatic function were offered repeat testing.
Results: 204 children were included. 11 children were prescribed
ivacaftor and four of these became pancreatic sufficient. Five children
with a residual CFTR function mutation were pancreatic insufficient at
diagnosis. Four became pancreatic sufficient. Conclusion: there is
benefit in re-evaluating pancreatic function in children with cystic
fibrosis regularly, especially if on ivacaftor or pancreatic
insufficient with a residual CFTR function mutation.