Genetic Pediatric Pulmonary Disease

Abstract

Genomic medicine is of increasing importance in all medical specialties, including pediatric pulmonology. Lung manifestations commonly observed in the pediatric pulmonary clinic are often multifactorial in origin, but phenotypes, including neonatal respiratory distress, interstitial lung disease, bronchiectasis, pulmonary fibrosis, vascular abnormalities, and pneumothorax, have a strong association to certain genetic conditions, and a genetic differential diagnosis should be considered in these patients. This chapter discusses the clinical features and radiological findings of several childhood onset genetic conditions with significant respiratory involvement. Conditions reviewed include surfactant deficiencies, brain-lung-thyroid syndrome, pulmonary alveolar proteinosis, primary ciliary dyskinesia, immune deficiencies, short telomere syndromes, Hermansky Pudlak syndrome, alveolar capillary dysplasia, pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia, connective tissue disorders, and Birt-Hogg-Dube syndrome.