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




Ivacaftor in a young boy with the rare gating mutation S549R - use of lung clearance index to track progress: a case report - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

BMC Pulmonary Medicine

, 15:123

First Online: 16 October 2015Received: 28 April 2015Accepted: 08 October 2015

Abstract

BackgroundIvacaftor 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 presentationWe 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.

ConclusionWe 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.

KeywordsCystic fibrosis Ivacaftor S549R Gating mutation N2MBW LCI AbbreviationsCFTRCystic fibrosis transmembrane conductance regulator

ClChloride

FDAFood and drug administration

FEV1Forced expiratory volume in the first second

LCILung clearance index

N2MBWNitrogen multiple-breath washout

Nina Lenherr and Marco Lurà contributed equally to this work.

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Autor: Nina Lenherr - Marco Lurà - Daniel Trachsel - Philipp Latzin - Juerg Hammer

Fuente: https://link.springer.com/







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