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Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations
Lindsay C Burrage1, Jeffrey S Heinle2, Robert H Cerfolio3
1Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, USA.
Insights
Mutations in the filamin A gene cause diffuse lung disease in children. This case highlights delayed diagnosis and altered disease progression in a school-aged child, ultimately requiring lung transplantation.
Area of Science:
- Genetics and Molecular Biology
- Pediatric Pulmonology
- Thoracic Surgery
Background:
- Mutations in the filamin A gene (FLNA) are associated with diffuse lung disease in early childhood.
- Clinical presentations and outcomes for FLNA-related lung disease exhibit significant variability.
- A substantial number of early-life cases result in mortality or necessitate lung transplantation.
Observation:
- A school-aged child presented with delayed diagnosis of FLNA mutation.
- The natural history of her emphysematous lung disease was modified by multiple lung volume reduction surgeries.
- The patient ultimately required bilateral lung transplantation.
Findings:
- This case illustrates a delayed diagnosis of FLNA-related lung disease in a pediatric patient.
- Serial lung volume reduction surgeries altered the expected disease trajectory.
- Bilateral lung transplantation was the definitive treatment for end-stage lung disease.
Implications:
- Early diagnosis of FLNA mutations is crucial for appropriate management of pediatric diffuse lung disease.
- Understanding the impact of interventions like lung volume reduction surgery on disease progression is important.
- This case underscores the potential role of lung transplantation in managing severe FLNA-associated lung disease.
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.
