Sinonasal Disease in Pediatric Patients With Cystic Fibrosis and the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) I1234V Mutation in Qatar.

Background and objective Sinonasal disease is a common but underrecognized manifestation in patients with cystic fibrosis (CF). The CF transmembrane conductance regulator (CFTR) I1234V mutation is the most prevalent CF mutation in Qatar, yet its specific impact on upper airway pathology remains poorly characterized. This study aimed to evaluate the prevalence and clinical features of sinonasal disease in pediatric patients with CF who are homozygous for the CFTR I1234V mutation in Qatar. Methodology A retrospective cross-sectional study was conducted at Sidra Medicine, including pediatric patients diagnosed with homozygous CFTR I1234V mutation between September 1, 2017, and June 30, 2024. Clinical data, sinonasal symptoms, ENT examination findings, computed tomography (CT) imaging results, and surgical interventions were collected and analyzed. Results A total of 29 patients were included (16, 55.1%, female, mean age 10.4 years). More than half (16, 55.1%) were asymptomatic for sinonasal complaints. However, 13 (44.8%) reported nasal congestion, and 8 (27.5%) had nasal polyps on endoscopy. CT scans performed in nine patients revealed sinusitis in all cases (100%) and polyposis in seven (77.7%). Surgical intervention was required in 8 (27.5%) patients, primarily functional endoscopic sinus surgery. Co-colonization with methicillin-resistant Staphylococcus aureus (MRSA) and Pseudomonas was noted in three (10.3%) patients. Conclusions Pediatric patients with CF who are homozygous for the I1234V mutation in Qatar exhibit variable expression of sinonasal disease, with many demonstrating radiologic or endoscopic abnormalities despite being asymptomatic. These findings highlight the importance of routine ENT assessment in this population, even in the absence of complaints, to guide early intervention and potentially reduce respiratory complications.