Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations. Issue 1 (4th October 2021)

• Record Type: Journal Article
• Authors: Burrage, Lindsay C.; Heinle, Jeffrey S.; Cerfolio, Robert H.; Guillerman, Robert P.; Patel, Kalyani R.; Santiago, Nahir C.; Hoover, Wynton C.; Mallory, George B.
• Is Part Of: Pediatric pulmonology. Volume 57:Issue 1(2022)
• Page Start: 224
• Page End: 230
• Publication Date: 2021-10-04
• Subjects: filamin A mutation -- genetics/genome‐ -- interstitial lung disease (ILD) -- lung transplantation -- wide association studies (GWAS) -- lung volume reduction surgery; Pediatric respiratory diseases -- Periodicals; Pediatrics -- Periodicals; 618.922
• DOI: 10.1002/ppul.25681
• Languages: English
• ISSNs: 8755-6863

Abstract

Abstract: Diffuse lung disease in early childhood due to mutations in the filamin A gene has been recently reported. Clinical outcomes vary among individuals indicating variability in phenotype but a substantial proportion of reported cases in early life have ended up in death or lung transplantation. We recently encountered a school‐aged child in whom the diagnosis of a filamin A mutation was delayed and the natural history of emphysematous lung disease was altered by serial lung volume reduction surgeries. She eventually underwent a bilateral lung transplant and we report the natural history of her disease and treatments applied herein.