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Evaluation of the function of the CFTR protein by evaporimetry in patients with chronic rhinosinusitis, with and without polyposis

Grant number: 17/23802-6
Support type:Regular Research Grants
Duration: December 01, 2018 - November 30, 2020
Field of knowledge:Health Sciences - Medicine
Principal Investigator:Eulalia Sakano
Grantee:Eulalia Sakano
Home Institution: Faculdade de Ciências Médicas (FCM). Universidade Estadual de Campinas (UNICAMP). Campinas , SP, Brazil
Assoc. researchers: Fernanda Rodrigues da Cunha ; Fernando Augusto de Lima Marson ; Jose Dirceu Ribeiro

Abstract

Introduction: Chronic rhinosinusitis (CRS) is an inflammatory disease of the nasosinusal mucosa, that commonly present nasal polyps. CRS is usually associated with allergic fungal rhinosinusitis, respiratory disease exacerbated by aspirin, cystic fibrosis (CF), primary ciliary dyskinesia or immunodeficiency. CRS has no etiology well-defined, may be associated to multiple factors and probably be caused by the interaction between genetic, environmental factors and specific reactions of the respiratory mucosa. The high prevalence of CRS in CF patients suggests that CFTR may contribute to the pathogenesis of CRS, and maybe, this relationship could be present not only in CF patients. Objective: To evaluate the main mutations of the CFTR gene in CRS and the functionality of the CFTR protein by evaporimetry and to verify if there is any association with the presence or absence of nasal polyposis. Methods: Subjects will be selected with CRS, adults from the Rhinology outpatient clinic of the Hospital de Clínicas of Unicamp, who underwent otorhinolaryngological evaluation (clinical examination - SNOT 22, nasofibroscopy and high resolution computed tomography of the paranasal sinuses), sweat test, evaporimetry and genetic analysis of CFTR variants. A healthy control group will have the CFTR function evaluated by sweat test and by evaporimetry. Expected result: The therapeutic approaches used are based on the clinical phenotypes of CRS, with or without polyps, however a controversial outcome is observed. The evaluation of CFTR function and the identification of CFTR variants in patients with CRS may be of clinical importance due to the development of precision medicine in CF. (AU)