Nasal polyposis and cystic fibrosis(CF): review of the literature
| Autor: | J. Djadi-Prat, Jean-Paul Bonnefont, Caroline Elie, Isabelle Sermet, Maryse Magen, Vincent Couloigner, M. Ferrec, Yves Manach, Bernard Lacour, Gérard Lenoir, M.N. Feuillet-Fieux |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Male Mutation Pancreatic disease Cystic Fibrosis business.industry Genetic counseling DNA Mutational Analysis Cystic Fibrosis Transmembrane Conductance Regulator General Medicine medicine.disease medicine.disease_cause Severity of Illness Index Cystic fibrosis Phenotype Nasal Polyps Otorhinolaryngology Risk Factors Genotype Severity of illness Immunology medicine Humans Allele business |
| Zdroj: | Rhinology journal. 49:347-355 |
| ISSN: | 0300-0729 |
| DOI: | 10.4193/rhino10.225 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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