Cystic Fibrosis: Diagnostic Tests

Optional medical device diagnostics – depending on the results of the history, physical examination, and obligatory laboratory parameters – for differential diagnostic clarification.

  • Nasal transepithelial potential difference (nPD) – if the sweat test (determination of chloride ion concentration; gold standard) was unremarkable or borderline, but suspicion persists (because of inconclusive mutation analysis).
  • Abdominal ultrasonography (ultrasound of abdominal organs) – for initial diagnosis and follow-up[meconium ileus (intestinal obstruction in newborns due to the infant’s very meconium/blackish-green, odorless stool); distal intestinal obstruction syndrome; fibrosing colonopathy; steatosis hepatis (fatty liver; approx. 30% of patients); multinodular cirrhosis (72% of adult patients); pancreatic lipomatosis/increased storage of fat cells in pancreatic tissue]
  • Magnetic resonance imaging of the thorax/chest (thoracic MRI) – in infants and young children for early detection of changes in the lungs (long before symptoms appear).
  • Thoracic MRI (lung) – in infants and young children for early detection of changes in the lungs (long before symptoms occur).
  • Computed tomography of the thorax (chest CT) [typical radiological changes include:
    • Hyperinflation of the lungs
    • Upper lobe bronchial walls thickened by intrabronchial mucus secretion
    • Typical CF bronchiectasis (visible in the form of ring shadows)]
  • X-ray of the thorax (X-ray thorax), in two planes – in case of respiratory infections (follow-up).
  • X-ray of the abdomen (X-ray abdomen) – for suspected meconium ileus.
  • Computed tomography of the abdomen (abdominal CT) – in case of complications in the gastrointestinal tract.