Fact-sheet: Cystic fibrosis
Updated on 04/17/2018 at 3:47 PM
View all RADEOS cases associated with this fact-sheet
Definition
Most common severe genetic disease (1/3200 births), autosomal recessive mutation of the CFTR gene
Pulmonary involvement: leading cause of morbidity and mortality
Early bronchial inflammation, followed by superinfection with production of viscous mucus, impaired mucociliary clearance, bronchiectasis, and destruction of the pulmonary parenchyma by proteolytic enzymes and oxidants, leading to respiratory failure.
Chronic bronchopathy from 1 year of age
Other associated diagnoses:
- DIOS: impaction by a mucofecal mass in the terminal ileum and cecum
- Intussusception: in adults, usually ileocolic (risk factors: DIOS, mucocele of appendix)
Ultrasound
Pancreas:
- Pancreatic cyst (persistent secretion despite exocrine pancreatic insufficiency and ductal obstruction)
- Diffuse lipomatous pseudohypertrophy of the pancreas
- Pancreatic atrophy
Liver:
- Focal or multilobular biliary cirrhosis: initially periportal hyperechogenicity
- Steatosis +/- hepatomegaly
Gallbladder:
- Microgallbladder: < 2 cm long, < 1.5 cm wide
- Gallstones
CT
- Bronchiectasis
- Mucoid impactions with bronchocele
- Peribronchovascular interstitial thickening (classically involving the right upper lobe)
- Alveolar consolidation (in case of superinfection)
- Atelectasis
- Thoracic hyperinflation
- Emphysema
- Mosaic lung pattern due to air trapping
- Mediastinal lymphadenopathy
Management
Follow-up recommendations:
Systematic, annual:
- Chest X-ray, frontal + lateral: 1x/year and with each intercurrent event
- Abdominal ultrasound
- PFTs
Non-systematic:
- Noncontrast chest CT: from age 6 as baseline CT, or pretransplant CT, or in case of prolonged exacerbation despite appropriate treatment.