Non-pulmonary CFTR-related symptom improvement with ivacaftor in p.Phe508del/p.Arg117His (7T) cystic fibrosis.
Respirol Case Rep
; 11(1): e01079, 2023 Jan.
Article
in En
| MEDLINE
| ID: mdl-36569635
ABSTRACT
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. 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. 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. Care for those with mild CF phenotypes, CRMS/CFSPID and those with CFTR-RD must be individualized, 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Diagnostic_studies
Language:
En
Journal:
Respirol Case Rep
Year:
2023
Document type:
Article