Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease.

ABSTRACT: Background: Interstitial lung disease (ILD) has been recently reported in a few patients with pathogenic variants in the Filamin A (FLNA) gene with variable presentation and prognosis. This study evaluated the respiratory manifestations and clinical features in children with FLNA disease. Methods: We conducted a retrospective review of pediatric patients with variants in FLNA in a tertiary children's hospital. The clinical features, genotype, management, and outcomes were analyzed. Results: We identified 9 patients with variants in FLNA aged 15 months to 24 years, 4 females and 5 males. Six patients had abnormal chest imaging ranging from mild interstitial prominence to atelectasis, interstitial densities, and hyperinfla

SUBMITTER: Shah AS 

PROVIDER: S-EPMC8082031 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature