The Role of Ivacaftor in Severe Cystic Fibrosis in a Patient With the R117H Mutation.
Cystic fibrosis (CF) conductance transmembrane regulator functions as a chloride (Cl-) channel in multiple organs, including the lungs. More than 1,800 disease-associated mutations have been identified, which can be divided into six classes. In patients with CF due to class III gating mutations, ivacaftor produces significant improvement in lung function, weight, reduction in sweat chloride level, and pulmonary exacerbations by enhancing the probability of chloride channel opening (gating). Although the benefit of ivacaftor in CF due to gating mutations is established, its potential role in patients with CF due to class IV conductance mutations is emerging. We report 6 months' prospective stability of lung function, improved BMI, reduced pulmonary exacerbations, and reduction in sweat chloride level in a patient with severe CF and the class IV R117H mutation. High-resolution CT scan also improved, thus highlighting the potential usefulness of ivacaftor in patients with severe CF due to class IV mutations.
Cork Adult Cystic Fibrosis Centre; Health Research Board Clinical Research Facility, University College Cork, Cork, Ireland.
Nicola J
NJ
Ronan
Cork Adult Cystic Fibrosis Centre.
Claire
C
Fleming
Cork Adult Cystic Fibrosis Centre; Health Research Board Clinical Research Facility, University College Cork, Cork, Ireland.
Grace
G
O'Callaghan
Department of Radiology, University College Cork, Cork University Hospital, Wilton.
Michael M
MM
Maher
Cork Adult Cystic Fibrosis Centre; Health Research Board Clinical Research Facility, University College Cork, Cork, Ireland.
Desmond M
DM
Murphy
Cork Adult Cystic Fibrosis Centre; Health Research Board Clinical Research Facility, University College Cork, Cork, Ireland. Electronic address: b.plant@ucc.ie.
Barry J
BJ
Plant
D000627:Aminophenols / Q000627:therapeutic use*; D003550:Cystic Fibrosis / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D015363:Quinolones / Q000627:therapeutic use*; D014057:Tomography, X-Ray Computed
D000627:Aminophenols; D015363:Quinolones; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; C545203:ivacaftor