Cystic fibrosis is a genetic disease called autosomal recessive: this means that for a child to be affected, he must receive the gene from both his father and mother. This disease is caused by a malfunction of a channel responsible for the transfer of chlorine. The result is an abnormal thickening of mucus associated with dehydration and respiratory and digestive disorders. Thus, cystic fibrosis causes damage to many organs including two main sites which are the lungs and the pancreas
. Cystic fibrosis appears in early childhood and the life expectancy of the patient is reduced.
The symptoms of cystic fibrosis are:
- hyperviscosity, or thickened secretions emitted by the body;
- in the lungs, the emergence of a persistent cough, bronchitis and, in an advanced stage, chronic respiratory failure;
- in the pancreas, pancreatic insufficiency with abundant diarrhea sometimes causing an impact on growth;
- an association with diabetes is very common due to pancreatic insufficiency;
- in the digestive system, there is a risk of obstruction of the digestive tract;
- other organs are affected inconsistently and generally in advanced stages, including the heart.
Systematically, a neonatal screening between the age of 3 and 5 days is realized. Four other diseases are also tested during this screening, and in case of failure, other tests will be considered. The diagnosis of CF is made with a simple test, which consists of collecting and analyzing sweat for a presence of chlorine. However, this test is only possible on a child weighing at least 4 pounds. The search for the genetic mutation involved is also possible.
The treatment of cystic fibrosis is robust and requires a multidisciplinary care involving physicians from different specialties, a physiotherapist, a psychologist and a dietician. The patient will follow a rehabilitation process consisting of chest physiotherapy, a diet rich in calories and supplemented with enzymes (including lipase) and vitamins. In case of lung disorders or frequent infections, antibiotics are given after analyzing the germs in the sputum. In cases of advanced respiratory failure, a lung transplant, sometimes associated with that of the heart, is considered.