This is one of the most common genetic diseases.
Cystic fibrosis gene located on chromosome 7, encodes the first membrane protein called CFTR conditioning the quality of ion exchange between the glands and the lumen of the bronchus, but also upper respiratory tract, pancreas, digestive tract, the bile ducts.
Especially during the first year of life.
Then shift to attacks (super infection) characterized. Worsening respiratory symptoms with impaired general condition.
The bacterial colonization of the trachea bronchial tree is most often initially with Staphylococcus aureus or Haemophilus influenzae.
Then move to the pyocyaneus (very virulent, almost inaccessible to ATB and defense mechanisms).
Extra Respiratory Events
- Pancreatic disease (90% of cases)
- Nutritional disorders:
- maldigestion of fat
- increased energy needs related respiratory disability.
- Genital Event:
- delayed puberty
- infertile men (95% of cases)
- decreased fertility in women (but may have children with a risk of having a child with ¼: genetic counseling mandatory).
Easy when the typical picture combines childhood respiratory symptoms and digestive.
Difficult when the atypical forms are very moderate in their expression (bronchiectasis isolated, isolated intestinal damage, male infertility, diabetes).
At the slightest doubt, make further investigations in a specialized center, including the sweat test: this review is to determine the quantity of chlorine in sweat after collection on filter paper.
The collection is done by forearm trans-cutaneous irradiation with pilocarpine, which causes sweating at this level, or on the back and forehead sweating after saline.
The rate of chlorine in sweat is normally well below 50 mmol / l.
If rate> 60 mmol / l in children: positive
If> 70 mmol / l in adults: positive
The nasal DDB often negative values when they are high.
Standard = – 19 mv
Average CF = – 36 mv
search for a known mutation in the CFTR gene in cases of suspected cystic fibrosis (Lab specialized).
Evolution and Prognosis
The survival rate has been greatly improved in recent years: early diagnosis, advances in antibiotic treatment, care of patients in specialized centers
- Metabolic status and respiratory
- Bronchial colonization in relation to Pseudomonas aeruginosa.
- Occurrence of complications (right heart failure, cirrhosis, pneumothorax)
Care and Treatment
Regular practice of respiratory physiotherapy
- Antibiotic therapy adapted to the ECBC (sputum):
- for loss of appetite, weight loss
- increased cough or sputum purulence
- Preventive / aerosol aminoglycosides
- Influenza Vaccination anti systematic
- Transplant when severe hepatic cirrhosis
- Gene therapy = hope (the goal is to transfer the CFTR gene in respiratory epithelial cells patients)
Cons respiratory failure
- ANTAD, CARDIF
- medical supervision (control saturation)
- technical surveillance (check flow meters)
Supports 100% for the ALD