Ivacaftor as salvage therapy in a patient with cystic fibrosis genotype F508del/R117H/IVS8-5T

Journal of Cystic Fibrosis

Volumn 14, Issue 4, 2015, Pages e4-e5

  Carter, S ^a   Kelly, S ^a   Caples, E ^a   Grogan, B ^a   Doyle, J ^a   Gallagher, C G ^a   McKone, E F ^a  

^a ST VINCENT S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

CFTR corrector therapy; CFTR genotype; Pharmacogenetics

Indexed keywords

ANTIBIOTIC AGENT; C REACTIVE PROTEIN; CHLORIDE; ELASTASE; IVACAFTOR; AMINOPHENOL DERIVATIVE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; QUINOLONE DERIVATIVE;

ADULT; ARTICLE; BACTERIAL GROWTH; BODY WEIGHT; BURKHOLDERIA INFECTION; BURKHOLDERIA MULTIVORANS; CASE REPORT; CYSTIC FIBROSIS; DISEASE EXACERBATION; EXERCISE; FORCED EXPIRATORY VOLUME; GENOTYPE; HUMAN; LUNG DISEASE; LUNG FIBROSIS; LUNG FUNCTION; LUNG INFECTION; LUNG TRANSPLANTATION; MALE; MIDDLE AGED; OUTPATIENT CARE; OXYGEN CONSUMPTION; PANCREAS INSUFFICIENCY; REST; SALVAGE THERAPY; SPUTUM; SWEAT; THERAPY EFFECT; GENETICS;

AMINOPHENOLS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENOTYPE; HUMANS; MALE; MIDDLE AGED; QUINOLONES; SALVAGE THERAPY;

EID: 84937632681     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2015.01.010     Document Type: Article

References (11)

1. Ramsey B.W., Davies J., McElvaney N.G., et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 2011, 365(18):1663-1672.
2. Van Goor F., Yu H., Burton B., Hoffman B.J. Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. J Cyst Fibros 2014, 13(1):29-36.
3. Zolin A., McKone E.F., van Rens J., et al. ECFS Patient Registry Annual Data Report 2010 2012.
4. Moss R.B., Flume P.A., Elborn J.S., et al. Ivacaftor treatment in patients with cystic fibrosis who have an R117H-CFTR mutation, the KONDUCT study. J Cyst Fibros 2014, 13(S2):44.
5. McKone E.F., Emerson S.S., Edwards K.L., Aitken M.L. Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003, 361(9370):1671-1676.
6. (accessed July 2014). http://www.cftr2.org/.
7. Kiesewetter S., Macek M., Davis C., et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993, 5(3):274-278.
8. Noone P.G., Pue C.A., Zhou Z., et al. Lung disease associated with the IVS8 5T allele of the CFTR gene. Am J Respir Crit Care Med 2000, 162(5):1919-1924.
9. Massie R.J., Poplawski N., Wilcken B., Goldblatt J., Byrnes C., Robertson C. Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. Eur Respir J 2001, 17(6):1195-1200.
10. Thauvin-Robinet C., Munck A., Huet F., et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet 2009, 46(11):752-758.
11. Comer D.M., Ennis M., McDowell C., et al. Clinical phenotype of cystic fibrosis patients with the G551D mutation. QJM 2009, 102(11):793-798.