title: Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation.
abstract: OBJECTIVE
  To explore whether there is an increased prevalence of chronic rhinosinusitis (CRS) in known cystic fibrosis (CF) carriers. Self-reported CRS affects 13% to 14% of the US population and clusters in families, which suggests that genetic factors may play an etiologic role. Cystic fibrosis is an inherited recessive disorder that invariably affects the sinuses. The frequency of CF mutations has been reported to be higher in patients with CRS than in unaffected controls.
  
  
  METHODS
  Obligate CF carriers (parents of patients with CF) were recruited from the Johns Hopkins CF clinic. The presence of signs and symptoms of CRS was assessed by a sinus disease questionnaire. A subgroup of participants was evaluated by a physician experienced in the diagnosis of CRS.
  
  
  RESULTS
  Fifty-three (36%) of 147 obligate CF carriers who returned a completed questionnaire had self-reported CRS. Twenty-three CF carriers (14 with and 9 without CRS based on self-reporting in the questionnaire) were clinically evaluated. Seven were diagnosed as having CRS (all 7 with self-reported CRS), while another 6 had allergic rhinitis or recurrent acute rhinosinusitis (all 6 with self-reported CRS), and 10 had no evidence of active sinus disease (1 with self-reported CRS). The sensitivity (100%) and specificity (56%) of the questionnaire for physician-diagnosed CRS was similar to that of other survey instruments used to estimate the prevalence of self-reported CRS in the general population.
  
  
  CONCLUSIONS
  Carriers of a single CF mutation have a higher prevalence of CRS than the general population.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
authors.forename: Xinjing
authors.initials: X
authors.lastname: Wang
authors.forename: Jean
authors.initials: J
authors.lastname: Kim
authors.forename: Rita
authors.initials: R
authors.lastname: McWilliams
authors.forename: Garry R
authors.initials: GR
authors.lastname: Cutting
mesh_terms: D016022:Case-Control Studies; D002908:Chronic Disease; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006306:Health Surveys; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D015995:Prevalence; D012220:Rhinitis / Q000453:epidemiology / Q000235:genetics*; D012680:Sensitivity and Specificity; D012852:Sinusitis / Q000453:epidemiology / Q000235:genetics*; D011795:Surveys and Questionnaires
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator