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Cystic Fibrosis, Pulmonary
KEY FACTS
Terminology
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Autosomal recessive multisystem disorder caused by dysfunctional chloride ion transport across epithelial surfaces → thickening of secretions (e.g., mucus, digestive fluids, sweat)
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In lungs, abnormal mucus & degraded WBCs → chronic airway impaction → recurrent inflammation & infections → chronic airway damage (in progressively worsening cycle)
Imaging
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Most common in upper lobes, superior lower lobes
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Peribronchial thickening (early finding)
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Mosaic attenuation due to air-trapping, best seen on expiratory CT
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Bronchiectasis with signet ring sign (bronchus larger than adjacent artery)
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Mucus plugging within dilated bronchi (finger-in-glove appearance)
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Tree-in-bud centrilobular nodular opacities on CT
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Pathology
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Most common lethal genetic disorder in Caucasians
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∼ 1 in 2,500 affected
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Mutation in both copies of CF transmembrane conductance regulator ( CFTR ) gene at chromosome 7q31.2 → defective chloride transport → abnormal water regulation
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> 1,000 genetic defects can result in CF; ΔF508 mutation of CFTR most common (∼ 90%)
Clinical Issues
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70% present < 1 year of age: GI symptoms more common
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90% by 12 years of age: Respiratory more typical
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Often have asthma-type symptoms
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Median survival: 41.1 years
Diagnostic Checklist
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Annual chest radiograph or low-dose surveillance CT
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CT best assesses progressive disease & predicts future exacerbations vs. pulmonary function tests, radiographs
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Frontal radiograph in a patient with cystic fibrosis (CF) shows prominent bronchiectasis
in the upper lobes + left lower lobe consolidation with nodularity
.
in the upper lobes + left lower lobe consolidation with nodularity .
Axial NECT in a CF patient shows bilateral upper lobe bronchiectasis with consolidation
of the anterior segment of the left upper lobe. Note the signet ring sign (or pearl ring sign)
in the right upper lobe with the dilated bronchus forming the ring & the adjacent artery forming the attached jewel.
of the anterior segment of the left upper lobe. Note the signet ring sign (or pearl ring sign) in the right upper lobe with the dilated bronchus forming the ring & the adjacent artery forming the attached jewel.
Frontal radiograph in a 7 year old with CF shows mild peribronchial thickening in the perihilar regions
, an early finding of CF that is indistinguishable from common viral bronchiolitis.
, an early finding of CF that is indistinguishable from common viral bronchiolitis.
Coronal CTA in a 12-year-old CF patient with hemoptysis shows an enlarged right bronchial artery
. Evaluation of the more distal branches & adjacent parenchyma (for alveolar hemorrhage & extravasation) may help localize the source of bleeding. There is also upper lobe bronchiectasis & mucus plugging bilaterally
.
. Evaluation of the more distal branches & adjacent parenchyma (for alveolar hemorrhage & extravasation) may help localize the source of bleeding. There is also upper lobe bronchiectasis & mucus plugging bilaterally .
TERMINOLOGY
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