Cystic Fibrosis
Mucovicidosis
 

·        Abnormal secretions from exocrine glands

·        Autosomal recessive almost always in Caucasians

o       Defect in gene which codes for cystic fibrosis transmembrane conductance regulator (CFTR)

·        Major clinical manifestations: COPD and pancreatic insufficiency

·        Elevated concentration of Na and Cl in sweat

 

X-ray

 

• Atelectasis

  • Discoid, segmental, lobar with RUL 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 Staph,  Pseudomonas and P. cepacia

• Clubbing and hypertrophic osteoarthropathy can occur

• Recurrent pneumothorax is common

 

 

Frontal chest x-ray in cystic fibrosis shows diffuse interstitial disease
with bronchiectasis and nodular densities of mucoid impaction

 

Other 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

 

Clinically

 

• Chronic cough, recurrent pulmonary infections

• Higher incidence of asthma and allergy