– 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)
Diagnostic:
– 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.