Cystic Fibrosis

– Cystic fibrosis is the most common autosomal recessive severe genetic disease in Caucasians.

– It is due to an abnormality in CFTR (it controls the chloride channels of epithelial membranes).

The .DELTA.F 508 mutation is the most common.

– This modification is responsible for an anomaly of all the mucous glands in the body secretions by altering impermeability chlorine: Respiratory Tract; pancreas (pancreatic insufficiency); of the entire gastrointestinal tract.

Mucus is dehydrated and viscous.

– Respiratory involvement is the severity of the disease and dominates life-threatening.

– Bronchial secondary infections are responsible for essentially driven by three bacteria: Staphylococcus aureus, Haemophilus influenzae, Pseudomonas aeruginosa. (As Burkholderia cepacia)

CT imaging of cystic fibrosis
CT imaging of cystic fibrosis


– Antenatal screening is indicated when parents have had a child with cystic fibrosis.

It is made from CVS in the 8th and 10th week.

The genetic study of a couple wishing to have a child is indicated if it belongs to a family at risk for cystic fibrosis.

– Respiratory signs are prominent in the early years of life; they are dominated by the permanent cough with major bronchial congestion; clubbing is quasiconstant.

– The failure to thrive is quasiconstant

– Digestive Events: meconium ileus may be indicative of the disease in the newborn (20% of cases).

External pancreatic insufficiency is very common (85%) characterized by steatorrhea.

cholelithiasis, chronic diarrhea; cirrhosis is possible.

– Attacks ENT (common) -> nasal polyps, sinusitis, otitis.