Unsolved severe chronic rhinosinusitis elucidated by extensive CFTR genotyping

Severe chronic rhinosinusitis in children should alert clinicians and extensive CFTR genotyping should be performed. We propose that thorough clinical and functional assessment in severe chronic rhinosinusitis is valuable to discover rare mutations which could be treated by CFTR correctors to postpone pulmonary infection.

[1]  I. Sermet-Gaudelus,et al.  Changes of CFTR functional measurements and clinical improvements in cystic fibrosis patients with non p.Gly551Asp gating mutations treated with ivacaftor. , 2017, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[2]  D. Hamilos.  Problem-based Learning Discussion: Medical Treatment of Pediatric Chronic Rhinosinusitis , 2016, American journal of rhinology & allergy.

[3]  Slavica Jonic,et al.  Full-open and closed CFTR channels, with lateral tunnels from the cytoplasm and an alternative position of the F508 region, as revealed by molecular dynamics , 2014, Cellular and Molecular Life Sciences.

[4]  A. Christie,et al.  Bacteriology of the paranasal sinuses in pediatric cystic fibrosis patients. , 2012, International journal of pediatric otorhinolaryngology.

[5]  H. Goossens,et al.  EPOS 2012: European position paper on rhinosinusitis and nasal polyps 2012. A summary for otorhinolaryngologists. , 2012, Rhinology.

[6]  C. von Buchwald,et al.  CT of the paranasal sinuses is not a valid indicator for sinus surgery in CF patients. , 2012, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[7]  B. Kerem,et al.  Recommendations for the classification of diseases as CFTR-related disorders. , 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[8]  I. Brook.  Microbiology of sinusitis. , 2011, Proceedings of the American Thoracic Society.

[9]  H. Arets,et al.  Upper and lower airway cultures in children with cystic fibrosis: do not neglect the upper airways. , 2010, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[10]  J. Mainz,et al.  Management of chronic rhinosinusitis in CF. , 2009, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[11]  P. Lebecque,et al.  Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis , 2009, Thorax.

[12]  J. Mainz,et al.  Concordant genotype of upper and lower airways P aeruginosa and S aureus isolates in cystic fibrosis , 2009, Thorax.

[13]  Vicky A Legrys,et al.  Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. , 2008, The Journal of pediatrics.

[14]  A. Drake,et al.  Are lower airway or throat cultures predictive of sinus bacteriology in cystic fibrosis? , 2006, Pediatric pulmonology.

[15]  Weimin Sun,et al.  Extensive Sequencing of the CFTR gene: lessons learned from the first 157 patient samples , 2005, Human Genetics.

[16]  Xinjing Wang,et al.  Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation. , 2005, Archives of otolaryngology--head & neck surgery.

[17]  T. Chatila,et al.  Increased prevalence of mutations in the cystic fibrosis transmembrane conductance regulator in children with chronic rhinosinusitis. , 2002, Pediatrics.

[18]  E. Shapiro,et al.  Bacteriology of the maxillary sinuses in patients with cystic fibrosis. , 1982, The Journal of infectious diseases.