Bronchiectases are irreversible dilatations of the bronchial lumen that are produced as a consequence of a complex vicious circle, made up of a lesion of the mucociliary system, inflammation, infection, and reparation of the respiratory tract, being an idiopathic cause in 25-45% of cases. Clinically they usually present with cough and chronic expectoration, recurrent exacerbation due to overinfection, and progressive deterioration of pulmonary function, which need repeated antibiotic treatments. Identifying the genetic origin of these disorders has implications not only from the perspective of family counseling, but also with regards to the specific therapeutic management. The main genetic disorders associated with bronchiectases development are cystic fibrosis, primary ciliary dyskinesia, alpha-1 antitrypsin deficiency, and primary immunodeficiencies. Also, several studies have proven that the presence of mutations in amiloride-sensitive sodium channels (ENaC) or of a mutation in CFTR associated with a trans mutation in said channels postulate a risk factor associated with bronchiectases. The bronchiectases panel encompasses the main genes associated with the described pathologies. This panel includes genes whose defects are associated with BC of non-immune etiology development. In those cases in which a clinical suspicion of immunodeficiency as primary etiology exists, we suggest our susceptibility to respiratory diseases comprehensive panel.
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