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01.12.2015 | Case report | Ausgabe 1/2015 Open Access

BMC Pulmonary Medicine 1/2015

Ivacaftor in a young boy with the rare gating mutation S549R - use of lung clearance index to track progress: a case report

BMC Pulmonary Medicine > Ausgabe 1/2015
Nina Lenherr, Marco Lurà, Daniel Trachsel, Philipp Latzin, Juerg Hammer
Wichtige Hinweise
Nina Lenherr and Marco Lurà contributed equally to this work.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

NL and ML contributed equally to this article. All authors contributed to this case report and all authors read and approved the final manuscript.



Ivacaftor acts as a potentiator of the cystic fibrosis transmembrane conductance regulator (CFTR) and increases the transepithelial chloride transport of CFTR in 9 of 10 known gating mutations causing cystic fibrosis. S549R is a rare gating mutation considered to be less sensitive to potentiators than all other gating mutations.

Case presentation

We report our first experience with ivacaftor in an 8-year-old boy with the rare S549R gating mutation. Besides subjective clinical improvements, the sweat chloride level and the lung clearance index decreased impressively within a few weeks of treatment while forced expiratory volume in the first second values remained in normal range.


We emphasize the value of measuring small airway function by lung clearance index as an outcome measure for new interventions targeting the correction of the CFTR defect at an age before traditional lung function parameters start to deteriorate.
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