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 [F] Diseases Research  / PubMed Research Articles  /
Filamin A (FLNA) mutation-A newcomer to the childhood interstitial lung disease (ChILD) classification.




Pediatric pulmonology 2017 Sep 12; ()


Shelmerdine SC1; Semple T2; Wallis C3; Aurora P4; Moledina S5; Ashworth MT6; Owens CM7;

Author Information
  • 1Department of Clinical Radiology, Great Ormond Street Hospital, London, UK.
  • 2Department of Clinical Radiology, The Royal Brompton Hospital, London, UK.
  • 3Department of Respiratory Paediatrics, Great Ormond Street Hospital, London, UK.
  • 4Department of Respiratory Paediatrics, Great Ormond Street Hospital, London, UK.
  • 5National Paediatric Pulmonary Hypertension Service UK, Great Ormond Street Hospital, London, UK.
  • 6Department of Pathology, Great Ormond Street Hospital, London, UK.
  • 7Department of Clinical Radiology, Great Ormond Street Hospital, London, UK.


AIM: Interstitial lung disease (ILD) in infants represents a rare and heterogenous group of disorders, distinct from those occurring in adults. In recent years a new entity within this category is being recognized, namely filamin A (FLNA) mutation related lung disease. Our aims are to describe the clinical and radiological course of patients with this disease entity to aid clinicians in the prognostic counseling and management of similar patients they may encounter.

METHOD: A retrospective case note review was conducted of all patients treated at our institution (a specialist tertiary referral childrens' center) for genetically confirmed FLNA mutation related lung disease. The clinical presentation, evolution, management and radiological features were recorded and a medical literature review of Medline indexed articles was conducted.

RESULTS: We present a case series of four patients with interstitial lung disease and genetically confirmed abnormalities within the FLNA gene. Their imaging findings all reveal a pattern of predominantly upper lobe overinflation, coarse pulmonary lobular septal thickening and diffuse patchy atelectasis. The clinical outcomes of our patients have been variable ranging from infant death, lobar resection and need for supplemental oxygen and bronchodilators.

CONCLUSION: The progressive nature of the pulmonary aspect of this disorder and need for early aggressive supportive treatment make identification crucial to patient management and prognostic counseling.

© 2017 Wiley Periodicals, Inc.




Publication Type: Journal Article

This article is licensed under the the National Library of Medicine License. It uses material from the PubMed National Library of Medicine Data.

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