Cystic Fibrosis
Mucovicidosis

General Considerations

• Disease of abnormal exocrine gland function
• Autosomal recessive almost always in Caucasians
• Defect in gene which codes for cystic fibrosis transmembrane conductance regulator (CFTR)
• Major clinical manifestations are pulmonary and pancreatic insufficiency
• Elevated concentration of sodium and chloride in sweat
• Most patients are diagnosed by age 1year

Clinical Findings

• Positive sweat chloride test
• Chronic cough
• Recurrent pulmonary infections
• Higher incidence of asthma and allergy
• Diabetes
• Undescended testicles

Imaging Findings

• Atelectasis
• Discoid, segmental, lobar with right upper lobe predominance
• Mucoid impaction
• Nodular and fingerlike densities along bronchovascular bundle
• Cylindrical or cystic bronchiectasis
• Peribronchial cuffing
• Hilar adenopathy
• Pulmonary arterial hypertension and cor pulmonale
• Recurrent pneumonias,
• Particularly Staphylococcus,  Pseudomonas and P. cepacia
• Clubbing and hypertrophic osteoarthropathy can occur
• Recurrent pneumothorax is common

Differential Diagnosis

• Asthma
• Bronchiectasis
• Aspergillosis

Associated Findings

• Bulky, fatty stools from lack of pancreatic enzymes
• Rectal prolapse
• Meconium ileus — earliest finding
• Meconium ileus equivalent — due to obstruction from stool in older children
• Fatty infiltration of the liver
• Focal biliary cirrhosis with portal hypertension
• Gallstones
• Pancreatic fibrosis due to recurrent Pancreatitis
• Diabetes mellitus
• Sinusitis
• Hypoplastic frontal sinuses

Treatment

• Goals are to maintain lung function and nutritional therapy
• Bronchodilators
• Chest physical therapy
• Mucolytic agents
• Pancreatic enzyme supplements
• Multivitamins

Prognosis

• Varies from country to country but highest in the United States
• 80% should reach adulthood

Cystic Fibrosis. White arrow points to mucous-filled bronchus; white circles enclose areas of peribronchial thickening and nodularity. Yellow arrow points to lingular atelectasis.
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Frontal chest x-ray in cystic fibrosis shows diffuse interstitial disease
with bronchiectasis and nodular densities of mucoid impaction

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