Introduction: Diagnosis and management of CRMS/CFSPID and cystic
fibrosis (CF) with mild phenotypes remains challenging, and this extends
to expanding practice with the use of CFTR modulators. Case: We describe
a case of an 18-year-old man with p.F508del/p.Arg117His(7T) initially
presenting with CRMS/CFSPID. He went on to be diagnosed with pancreatic
sufficient CF with minimal lung disease and no bronchiectasis. However,
he has had significant CFTR-related symptoms with recurrent pancreatitis
and chronic sinusitis. These non-pulmonary symptoms resolved following
introduction of the CFTR modulator ivacaftor. Discussion/ Conclusion:
Diagnosis and follow up of CRMS/CFSPID infants remains challenging, with
most guidelines based on consensus opinion. Care for those with mild CF
phenotypes, CRMS/CFSPID and those with CFTR-RD must be individualised,
and open dialogue, education and patient centred care is necessary to
ascertaining which patients might benefit from management in a
multidisciplinary CF clinic and treatment. There may be a role for
expanding the use of CFTR modulators to include non-pulmonary
manifestations of CFTR dysfunction in some cases.
Diagnosis and management of chronic sinusitis
