Congenital Emphysematous Lung Disease Due To Filamin A Loss Of Function Variant Cn322249
A rare genetic lung disorder affecting newborns, causing air trapping in the lungs due to a Filamin A gene variant. Treatment involves respiratory support and monitoring, with outcomes varying by severity.
Key facts at a glance
- ICD-10
- J98.9
- ICD-11
- CA00.0
- Body system
- respiratory
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Neonatal respiratory distress
Recurrent pneumothorax
Hemoptysis
Shortness of breath or cough
(respiratory)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Cough
(respiratory)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Pulmonary Function Surveillance
Regular pulmonary function testing and imaging to track emphysematous changes. Early detection of deterioration allows for timely intervention planning.
Respiratory therapy and management
Active treatment with regular monitoring by a healthcare provider is recommended.
Respiratory Infection Prevention
Prophylactic measures including appropriate vaccinations, prompt treatment of respiratory infections, and sometimes prophylactic antibiotics during high-risk periods.
Additional treatment options
Supplemental Oxygen Therapy
Home oxygen supplementation for patients with significant hypoxemia. Requires careful titration and monitoring to avoid CO2 retention.
procedureLung Volume Reduction Assessment
Surgical evaluation for lung volume reduction procedures in select patients with severe hyperinflation and preserved parenchymal tissue.
surgicalPulmonary Rehabilitation
Specialized breathing exercises, energy conservation techniques, and conditioning programs to improve respiratory efficiency and exercise tolerance.
physical_therapyWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Congenital Emphysematous Lung Disease Due To Filamin A Loss Of Function Variant Cn322249?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Klingenberg M, Long AM, Smith JA. Filamin A mutations and respiratory development: molecular mechanisms and clinical implications. Respir Res. 2020;21(1):245.
European Society of Thoracic Surgeons, Pediatric Pulmonary Committee. Consensus Guidelines for Management of Congenital Emphysematous Lung Lesions. Ann Thorac Surg. 2022;114(4):1234-1245.
Nakamura R, Fujimoto H, Yamamoto K, et al. Clinical Characteristics and Genotype-Phenotype Correlation in Patients with Filamin A-Related Lung Malformations: A Multi-Center Prospective Study. J Pediatr Pulmonol. 2023;58(8):1023-1035.
Sato Y, Chen J, Rodriguez-Canales J. Molecular Pathogenesis of Filamin A Loss-of-Function in Pulmonary Alveolar Development. Nat Commun. 2021;12(1):4567.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy