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Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification

Susan C Shelmerdine1, Thomas Semple2, Colin Wallis3

  • 1Department of Clinical Radiology, Great Ormond Street Hospital, London, UK.

Pediatric Pulmonology
|September 13, 2017
PubMed

Insights

Filamin A (FLNA) mutation related lung disease is a rare infant interstitial lung disease. Early identification and supportive treatment are crucial for patient management and prognostic counseling.

Area of Science:

  • Pediatric Pulmonology
  • Rare Genetic Disorders
  • Interstitial Lung Disease

Background:

  • Interstitial lung disease (ILD) in infants is a rare, heterogeneous group of disorders distinct from adult forms.
  • Filamin A (FLNA) mutation-related lung disease is an emerging entity within pediatric ILD.
  • Understanding FLNA-related lung disease is critical for diagnosis and management.

Observation:

  • A case series of four infants with genetically confirmed FLNA mutations and ILD was reviewed.
  • Radiological findings included upper lobe overinflation, septal thickening, and patchy atelectasis.
  • Clinical outcomes varied significantly, including infant mortality and need for respiratory support.

Findings:

  • FLNA mutations are associated with a distinct pattern of ILD in infants.
  • The disease course and clinical outcomes are highly variable.
  • Imaging findings provide key diagnostic clues.

Implications:

  • Early identification of FLNA mutation-related lung disease is essential for appropriate patient management.
  • Prognostic counseling requires understanding the variable clinical course.
  • Further research into FLNA's role in lung development may reveal therapeutic targets.
Abstract

Keywords:
FLNAfilamin Aimaginginterstitial lung disease

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