Cystic disease of lung

Polycystic lung disease (PCLUD) is an autosomal recessive disorder characterized by childhood-onset exertional dyspnea and cough due to progressive airflow obstruction in the lungs. Pulmonary imaging shows diffuse lung disease with pleural and subpleural cysts and peripheral consolidations, and lung biopsy shows bronchiolitis and lymphocytosis of the terminal bronchioles, often with features of pulmonary alveolar proteinosis (PAP). Most affected individuals have recurrent respiratory infections; some have an adverse response to BCG vaccination. Additional features may include digital clubbing, allergies, and atopic dermatitis (et al., 2024). [from OMIM]