ABCA3 deficiency from birth to adulthood presenting as paediatric interstitial lung disease

Paediatric disorders of pulmonary surfactant may occur due to mutations involving surfactant proteins B and C, and ATP-binding cassette subfamily A member 3 (ABCA3) genes. Recessive frameshift or nonsenseABCA3mutations are associated with respiratory failure and neonatal death but milder phenotypes ofABCA3deficiency due to missense, splice site, and insertion/deletions may result in survival beyond infancy. To date, only one case report describes the clinical course from birth to age 21 years and there are less than 10 adult cases. No guidelines exist for medical therapy due to the rarity of this condition. We describe the clinical course of a patient over 39 years and her younger brother who were both diagnosed at birth with an unspecified paediatric interstitial lung disease (ILD) and were eventually diagnosed withABCA3mutation in their adulthood. Our report highlights the minimal progression of theABCA3-related ILD without long-term medications, but the development of dyspnoea due to progressive pulmonary hypertension and airflow obstruction.