ABCA3 Surfactant‐Related Gene Variant Associated Interstitial Lung Disease in Adults: A Case Series and Review of the Literature

• Published in: Respirology case reports Vol. 13; no. 8; pp. e70304 - n/a
• Main Authors: Nolan, James, Rodgers, Jonathan, Mackintosh, John A.
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.08.2025; John Wiley & Sons, Inc
• Subjects: ABCA3 gene; Adults; Asthma; Case reports; Case Series; Cysts; Dyspnea; Family medical history; Females; Genetic testing; Hypoxia; interstitial lung disease; Lung cancer; Lung diseases; Lung transplants; Medical prognosis; Patients; Pediatrics; Pneumonia; Pulmonary arteries; pulmonary fibrosis; Pulmonary hypertension; Respiratory failure; Spirometry; Surfactants; surfactant‐related gene variant; ABCA3 gene; interstitial lung disease; surfactant‐related gene variant; pulmonary fibrosis
• ISSN: 2051-3380; 2051-3380
• DOI: 10.1002/rcr2.70304

ABSTRACT Surfactant‐related gene (SRG) variants are a rare but increasingly recognised cause of interstitial lung disease (ILD) in adults. Lung disease due to pathogenic variants in the adenosine triphosphate (ATP) binding cassette subfamily A member 3 (ABCA3) gene has been extensively described among infants and children but is rarely described in an adult population. The rarity and heterogeneity of lung disease due to ABCA3 variants raise significant challenges in recognition, diagnosis and management. In this case series we present three unique adult cases of ILD secondary to compound heterozygous ABCA3 variants, review the literature to provide an overview of this disease in an adult population and highlight the role for early genetic testing in young adults presenting with unusual ILD. Surfactant‐related gene variants are a rare but increasingly recognised cause of interstitial lung disease in adults. Lung disease due to pathogenic variants in the ABCA3 gene has been extensively described among infants and children but is rarely described in an adult population. In this case series, we present three unique adult cases of ILD secondary to compound heterozygous ABCA3 variants, review the literature to provide an overview of this disease in an adult population, and highlight the role for early genetic testing in young adults presenting with unusual ILD.