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Impact of the different mutations in the cystic fibrosis gene in children with chronic rhinosinusitis


Journal of Otolaryngology-ENT Research
Mafalda da Silva Ferreira,1 João Elói Moura,1 Ana Margarida Amorim,1 Ana Bernardo Ferreira,2 Luís Filipe Silva1

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Abstract

Background: Cystic fibrosis (CF) is a worldwide disease occurring mostly in caucasians. It is an autosomal recessive disorder that leads to a malfunction of CF transmembrane conductance regulator (CFTR). These mutations cause an ionic disorder on the body fluids and a modification on its consistency. Affects multiple parts of the body and rhinosinusitis is a common manifestation of the upper airway affection.

Material and methods: This retrospective study performed a statistical analysis of the prevelence of chronic rhinosinusitis with polyposis, genotipe and mortality in 30 children under 18 years with cystic fibrosis followed in the CF unit of Coimbra University Hospital.

Results: The mean age of this study was 12,9 years. Phenylalanine deletion at position 508 (F508delF508del)was the most prevalent genotype (66,7%). Females patients had an higher prevalence of morbidities, however male patients had an higher mortality rate 20% comparing to 6,7%. Nasal polyposis was present only in the living ones with F508delF508del genotype. ENT (ear, nouse and throut) symptons and an abnormal ENT examination were mostly observed in F508delF508del genotype.

Conclusions: CF is a lifelong disease that requires long-term surveillance and compliance. The involvement of the lower airway is prevalent in young chlidren. The uper airway symptoms becomes more important with disease progression. Nasal poliposis is prevalent on the older ones with F508delF508del genotype.In this kind of patients with persistent symptoms, who have failed medical management, are often considered appropriate candidates for functional endoscopic surgery. 

Keywords

chronic rhinosinusitis, cystic fibrosis, nasal polyposis, children, cystic, fibrosis, transmembrane, conductance, phenylalanine, inflammatory, response, exocrine, glandular, epithelium regulator

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