Table 7.

Key points: Rare and congenital lung disease

• Ivacaftor has been shown to improve CFTR function in approximately 10% of patients with cystic fibrosis, resulting in improved lung function and decreased pulmonary exacerbations

• Primary ciliary dyskinesia is diagnosed by biopsy of the nasal epithelium

• Inherited connective tissue disorders, including Marfan and Ehlers–Danlos syndromes, are associated with upper lobe–predominant emphysema, blebs, and spontaneous pneumothorax

Definition of abbreviation: CFTR = cystic fibrosis transmembrane conductance regulator.