Analysis of CFTR gene variants and clinical presentations in children with idiopathic bronchiectasis and unknown etiology

Backgrounds: Idiopathic bronchiectasis is an irreversible abnormal dilation of proximal subsegmentalbronchi. The aim was to survey CFTR gene variants in pediatric idiopathicbronchiectasis.Materials and Methods: All children with idiopathic bronchiectasis confirmed based on signs,symptoms, and HRCT findings and admitted to Tabriz Children’s Hospital, Iran were surveyedfrom ۲۰۱۹ to ۲۰۲۰ duration a cross-sectional study. Demographic and clinical information wasgathered by medical records and clinical examination and CFTR variants were investigated byliquid chromatography, direct sequencing, and multiple probe ligations tests. Then children wereallocated into two groups based on CFTR variants when CF-causing mutations of varyingclinical consequence variants were related to group ۱, and polymorphisms related to group ۲.Finally, two groups were compared in terms of demographic, clinical, and para-clinical findings.Descriptive statistics, Chi-square tests, and independent samples t-test were used to analyze thedata using SPSS software version ۲۲.۰.Results: Out of ۲۱ patients, ۱۰ (۴۷.۶%) children were males with a mean age of ۹.۷۵ years. Fiveclinically significant CFTR-related gene variants were identified (group ۱). Other patients eitherhad only a single polymorphism or no variants related to CFTR (group ۲). Age, FEV۱, and sweattests were lower in group ۱ than in group ۲.Conclusion: In this study, the CFTR variants in heterozygote types in pediatric diffusebronchiectasis with a normal or borderline sweat test. Therefore, it is necessary to determinewhether DB is a part of CFTR-related diseases failing to meet the diagnostic criteria of cysticfibrosis or a disease independent of cystic fibrosis.

Keywords:

Idiopathic bronchiectasis , Children , CFTR variants , Cystic fibrosis