Paranasal sinus size is decreased in CFTR heterozygotes with chronic rhinosinusitis

Abstract

Background: Cystic fibrosis (CF) heterozygotes with a single mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are at significantly higher risk to develop chronic rhinosinusitis (CRS). However the reasons why remain unknown. We tested the hypothesis that CFTR heterozygotes would have smaller sinus volumes than healthy controls. To exclude sinus disease as a confounding factor we also assessed paranasal sinus volume in those with CRS, but without known CFTR mutations. Methods:A total of 131 adults of white Northern European and Latino origin were recruited: 81 diagnosed with CRS and 50 healthy controls. Subjects were genotyped for 9 common CFTR mutations covering >80% of mutation prevalence. Those with CRS were separated by CFTR mutational status and matched demographically to healthy controls. Three-dimensional sinus volume, mucosal opacification, and skull volume were quantified to obtain the percentage of pneumatization and extent of mucosal disease in each sinus. Twenty-item Sino-Nasal Outcome Test (SNOT-20) and endoscopy scores were also analyzed. Results:In individuals diagnosed with CRS we identified 7 CFTR heterozygotes (8.64%); no CFTR mutations were identified in our healthy controls. There were no significant differences between the 3 matched groups other than sinus pneumatization. The frontal and maxillary sinuses were significantly smaller in CFTR heterozygotes with CRS compared to CFTR wild-type subjects with or without disease.Conclusion: CFTR heterozygotes with CRS have significantly smaller frontal and maxillary sinus size compared to those without mutations, irrespective of disease state. This sinus hypoplasia may contribute to impaired mucus clearance and chronic sinus disease development. C 2016 ARS-AAOA, LLC. EH. Paranasal sinus size is decreased in CFTR heterozygotes with chronic rhinosinusitis. Int Forum Allergy Rhinol. 2017;7:256-260. C hronic rhinosinusitis (CRS) is a common heterogeneous condition affecting approximately 12% to 15%

Cystic Fibrosis: The Sense of Smell

“…In our series, patients with CF had an endoscopic nasal score 15 of 5.65 ± 2.87, according to the score data between 2.3 and 2.8 obtained in a sample of only 7 CF subjects. 19 In fact, all 71 CF patients from our study had CRS characterized by purulent discharge and diffuse edema of the nasal mucosa.…”

“…This study is the first that prospectively evaluated nasal endoscopy and the QoL (SNOT-22 and VAS score) 19 In fact, all 71 CF patients from our study had CRS characterized by purulent discharge and diffuse edema of the nasal mucosa.…”

Chronic rhinosinusitis in the children presenting with mucoviscidosis: the current trends in diagnostics and treatment

“…Согласно другому исследованию, среди таких же гетерозигот статистически достоверно с большей частотой имеет место гипоплазия лобных и верхнечелюстных пазух, что тоже считается предрасполагающим к ХРС фактором. К примеру, у монозигот по наиболее частой мутации (Δ F508) гипоплазия лобных пазух отмечается в 98% случаев, верхнечелюстных -в 70%, в то время как среди лиц с отсутствием мутантных генов частота подобных анатомических особенностей составляет 69,8 и 50% соответственно [15]. Данные факты требуют дальнейшего изучения и, вероятно, лежат в основе более глубокого понимания патогенеза ХРС.…”

The Unified Airway: Does Asthma Influence Paranasal Sinus Pneumatization?

“…9 The mechanisms by which sinonasal or respiratory diseases account for altered paranasal sinus pneumatization remain unclear. Several theories have been suggested for this effect and include chronic sinus inflammation and infection, 10,11 genetic mechanisms, [4][5][6]12,13 regional blood flow anomalies, 9,14 and increased serum erythropoietin. 9 Separately, the unified airway theory postulates that the respiratory tract consists of an integrated whole rather than a series of independent anatomic sites.…”