The Delta F508 Mutation in Cystic Fibrosis and Impact on Sinus Development

Abstract

CF patients homozygous for the delta F508 mutation have a greater incidence of hypoplastic or underdeveloped sinuses. Whether this is secondary to an increased frequency of sinus infections or a phenotypic expression of the genetic mutation itself remains an area for further investigation.

Extensive Surgical and Comprehensive Postoperative Medical Management for Cystic Fibrosis Chronic Rhinosinusitis

“…In CF, impaired MCC often leads to mucopurulent debris filling the inferior half of the maxillary cavities despite "adequate" maxillary antrostomies, which remains a reservoir for chronic infection and seeding of the airway. 10 Ensuring access to the sinuses to enable cleaning could confer benefit in addition to the conventional goal of providing adequate ventilation. The modified endoscopic medial maxillectomy (MEMM) procedure involves removal of the medial maxillary wall, essentially marsupializing the maxillary sinus into the nasal cavity (Fig.…”

Are Chronic Rhinosinusitis and Paranasal Sinus Pneumatization Related?

“…Among cystic fibrosis (CF) patients, for whom sinus mucosal inflammation is nearly universal [1,2], sinus hypoplasia is well documented [2][3][4][5][6]. Because of these findings in CF, it has been suggested that mucosal disease and infection may lead to arrested sinus development [6][7][8].…”

“…Previous studies using radiographic instruments have been successful at differentiating sinus hypoplasia in CF [3][4][5], but have not been able to discern a difference in CRS without CF from unaffected controls [4,6].…”

Origins of Cystic Fibrosis Lung Disease

“…been asked for cystic fibrosis nasal sinuses, where hypoplasia is well-described 37 . CFTR is expressed early during development 38 , so in utero alterations are plausible.…”