Molecular study of CFTR gene mutations in children with diffuse bronchiectasis with unknown etiology (2018-2019)

Abstract

Diffuse bronchiectasis is an irreversible abnormal dilation of proximal sub segmental bronchi. Main manifestations related to bronchiectasis is chronic productive coughs and recurrent upper respiratory system infection. Mostly, patients have different stages of airways obstruction. Etiologic factors in half population of patients is recognized. Such as: childhood infections, immunodeficiency, allergic bronchopulmonary aspergillose, stimulants aspiration, primary ciliary dyskinesia, arthritis rheumatoid and other connective tissue disorders, ulcerative colitis and alpha-1 anti trypsin defect. Other known etiology for DB is cystic fibrosis and mutation in CFTR genes. Aim of our study is to investigate CFTR genes mutations at idiopathic bronchiectasis patients. Material and method: Under 18years old patients having idiopathic bronchiectasis whom referred to lung specialty clinics in Tabriz city, during one year, had been gathered. Bronchiectasis confirmation were based on signs and symptoms and HRCT findings. Known bronchiectasis etiologies (immune disorders, tuberculosis, typical cystic fibrosis, ...) in patients have been ruled out. Investigates on CFTR mutation done by liquid chromatography, direct sequencing and multiple probe ligations. Result: In this sectional study, 20 children with diffuse bronchiectasis were under study. In 8cases genetic mutations recognized which some of this mutations (5 of them) can cause cystic fibrosis due to informations from CFTR databases. Sweat test in all of the patients were on normal to border line ranges.