title: Comparison of radiographic and clinical characteristics of low-risk and high-risk cystic fibrosis genotypes.
abstract: BACKGROUND
  Patients with cystic fibrosis (CF) exhibit a wide range of disease severity, and can be broadly stratified into high-risk and low-risk groups based on cystic fibrosis transmembrane conductance regulator (CFTR) mutation class. Patients with a low-risk genotype are often diagnosed as adults, with milder disease and lower sweat chloride values. The aim of the current study was to better understand radiographic and clinical characteristics of sinus disease in adult CF patients within this risk category.
  
  
  METHODS
  Adult CF patients were retrospectively compared to a control group of patients with chronic rhinosinusitis. CF diagnostic testing and pulmonary characteristics were compared between high-risk and low-risk CF groups, and sinus CT findings were compared among all 3 groups.
  
  
  RESULTS
  When comparing CF cohorts (n = 25 and 30, respectively), earlier age at diagnosis (p < 0.001), higher sweat chloride values (p < 0.001), lower forced expiratory volume in 1 second (FEV1 ) values (p < 0.001), and a higher prevalence of pulmonary infection with Pseudomonas aeruginosa (p = 0.001) were found in the high-risk genotype group. A significantly increased incidence of sinus hypoplasia/aplasia and bony sclerosis was seen when comparing both CF groups to the control cohort (n = 30), as well as when comparing the high-risk and low-risk CF genotype cohorts.
  
  
  CONCLUSIONS
  The current study describes clinicopathologic findings of sinus disease in adult CF patients in the context of genotype severity. Our data demonstrate that while patients within a low-risk genotype cohort have generally milder lung disease, they retain classic radiographic findings of CF sinus disease that can help raise the index of suspicion for undiagnosed CF.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, University of Colorado, Aurora, CO.
authors.forename: Geoffrey R
authors.initials: GR
authors.lastname: Ferril
authors.forename: Jerry A
authors.initials: JA
authors.lastname: Nick
authors.forename: Anne E
authors.initials: AE
authors.lastname: Getz
authors.forename: Henry P
authors.initials: HP
authors.lastname: Barham
authors.forename: Milene T
authors.initials: MT
authors.lastname: Saavedra
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Taylor-Cousar
authors.forename: David P
authors.initials: DP
authors.lastname: Nichols
authors.forename: Douglas
authors.initials: D
authors.lastname: Curran-Everett
authors.forename: Todd T
authors.initials: TT
authors.lastname: Kingdom
authors.forename: Vijay R
authors.initials: VR
authors.lastname: Ramakrishnan
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002712:Chlorides / Q000378:metabolism; D002908:Chronic Disease; D003550:Cystic Fibrosis / Q000000981:diagnostic imaging / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005541:Forced Expiratory Volume / Q000502:physiology; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010256:Paranasal Sinuses / Q000002:abnormalities / Q000000981:diagnostic imaging; D011552:Pseudomonas Infections / Q000150:complications; D011550:Pseudomonas aeruginosa; D012189:Retrospective Studies; D012220:Rhinitis / Q000000981:diagnostic imaging; D012307:Risk Factors; D012852:Sinusitis / Q000000981:diagnostic imaging; D013542:Sweat / Q000737:chemistry; D014057:Tomography, X-Ray Computed
chemical_list: D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: CFTR; cystic fibrosis; sinus CT; sinus radiography; sinusitis