Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

Publication: <2005-> : Hoboken, NJ : Wiley-Liss
Original Publication: [Philadelphia, PA] : W.B. Saunders, [c1985-

Lung Diseases*/genetics ; Lung Diseases*/surgery ; Pneumonectomy*; Child ; Female ; Filamins/genetics ; Humans ; Mutation ; Phenotype

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.
(© 2021 Wiley Periodicals LLC.)

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Keywords: filamin A mutation; genetics/genome-; interstitial lung disease (ILD); lung transplantation; lung volume reduction surgery; wide association studies (GWAS)

0 (FLNA protein, human)
0 (Filamins)

Date Created: 20211209 Date Completed: 20220103 Latest Revision: 20220531

20221213

10.1002/ppul.25681

34882997