Bronchiectasis are irreversible dilatations of the bronchial lumen that result from a complex vicious cycle consisting of injury to the mucociliary system, inflammation, infection, and airway repair. Around 25-45% of cases are idiopathic. Clinically, they usually present with chronic coughing and expectoration, recurring exacerbations due to superinfection, and a progressive decline in pulmonary function requiring repeated antibiotic treatment. Identifying the genetic origin of these disorders has implications not only for family counseling but also for specific therapeutic management.
The main genetic disorders associated with the development of bronchiectasis are cystic fibrosis, primary ciliary dyskinesia, alpha-1 antitrypsin deficiency, and primary immunodeficiencies. Additionally, numerous studies have demonstrated that the presence of mutations in amiloride-sensitive sodium channels (ENaC) or the presence of a CTFR mutation associated with a trans- mutation in these channels constitutes a risk factor for bronchiectasis. The bronchiectasis panel covers the main genes associated with the described pathologies.
In cases where a comprehensive study is indicated, we suggest complementing this panel with the primary immunodeficiency panel, available at immunoHIC.