title: Nasal polyposis and cystic fibrosis(CF): review of the literature.
abstract: The aim of this study was to address whether NP might be a predictive factor for severity of CF. The authors collected data from the literature on NP as a unique or associated sign in CF and reviewed the clinical and molecular aspects of CF associated with NP. CF genotypes and clinical severity in NP(+) vs. NP(-) patients were reviewed, taking into account pulmonary function, frequency of P. aeruginosa lung infection, frequency of allergy, nutritional status, and exocrine pancreatic function. The CFTR gene was also analyzed in a patient with isolated severe NP as the unique feature of CF. This review of the literature showed a `milder` phenotype in `NP+` vs. `NP-` CF patients, contrasting with a marked association between NP and `severe` CF mutations. In addition, a complex genotype was identified, associating four heterozygous variants, namely p.Q493X (a severe mutation) on the paternal allele, and p.V562I, p.A1006E, and (TG)11(T)5 (IVS8-5T) on the maternal allele, in a case of CF presenting as isolated NP. The authors speculate that genetic/environmental factors associated with NP might attenuate the functional impact of `severe` CF mutations. The overrepresentation of CF carriers among patients with isolated NP also advocates the need for CFTR molecular screening in such populations for genetic counselling purposes.
authors.affiliation: Biochemistry A Laboratory, Necker-Enfants Malades Hospital, Paris, France.
authors.forename: M N
authors.initials: MN
authors.lastname: Feuillet-Fieux
authors.forename: G
authors.initials: G
authors.lastname: Lenoir
authors.forename: I
authors.initials: I
authors.lastname: Sermet
authors.forename: C
authors.initials: C
authors.lastname: Elie
authors.forename: J
authors.initials: J
authors.lastname: Djadi-Prat
authors.forename: M
authors.initials: M
authors.lastname: Ferrec
authors.forename: M
authors.initials: M
authors.lastname: Magen
authors.forename: V
authors.initials: V
authors.lastname: Couloigner
authors.forename: Y
authors.initials: Y
authors.lastname: Manach
authors.forename: B
authors.initials: B
authors.lastname: Lacour
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000453:epidemiology* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D009298:Nasal Polyps / Q000453:epidemiology* / Q000235:genetics; D012307:Risk Factors; D012720:Severity of Illness Index
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator