Clinical characteristics and genotype analysis of patients with cystic fibrosis and nasal polyposis

Clin Otolaryngol Allied Sci. 2003 Apr;28(2):125-32. doi: 10.1046/j.1365-2273.2003.00677.x.


The prevalence of nasal polyps in a group of paediatric patients with cystic fibrosis was prospectively studied in comparison with a control group with cystic fibrosis but without polyps. Clinical variables, including pulmonary function tests, skin testing and mucociliary transport, were carried out in both groups, as well as genotype analysis. Endoscopic intranasal evaluation identified polyps in 29 of 89 patients (33%). Statistical analysis revealed that patients with nasal polyposis had better pulmonary function, a higher rate of Pseudomonas aeruginosa colonization, more hospitalizations, and more prevalence of allergy to Aspergillus fumigatus than did the comparison group. We found no statistically different genotype distribution between the polyposis and the control group. However, it can be emphasized that the prevalence of the compound heterozygous genotype is higher in the nasal polyposis group than in controls. Our observations suggest that other genetic and environmental factors could play an important role in the development of nasal polyposis.

MeSH terms

  • Child
  • Child, Preschool
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Female
  • Genotype
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics
  • Nasal Polyps / complications
  • Nasal Polyps / epidemiology*
  • Nasal Polyps / genetics*
  • Prevalence
  • Prospective Studies


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator