Cystic fibrosis is a serious hereditary disease is characterized by an abnormal thickening of mucus, leading to respiratory and digestive important. It is a common condition, affecting 1 child in France to 3000 births. This genetic disease is transmitted as an autosomal recessive, meaning that a child has reached abnormal genes, one from the father and the mother. In France, an estimated 2 million people carry the defective gene, not sick, which can transmit the disease to their children without knowing it.

Cystic fibrosis, a disease of secretions

In 1989, a Canadian researcher, Dr. Lap Chee Tsui, highlighted the genetic defect responsible for the disease: the mutation of the CF gene, located on chromosome 7, resulting in the manufacture a defective protein to the origin of abnormal secretions. These are too viscous, evil and clog drain pipes and cavities. Moreover, they are more susceptible to infections.
The organs affected are those with serous glands, such as sweat glands and the pancreas or mucous membranes (producing mucus) as bronchi and intestine.

Symptoms vary from one patient to another

The most important and most characteristic of the disease are respiratory and digestive problems.
Mucus, abnormally thick, accumulates in the airways: the child has a cough and the repetitive tiring enormously. The stagnation of mucus promotes bronchial infection, which can become chronic or change the form of outbreaks. It causes inflammation of the bronchi, leading to chronic respiratory failure associated with end to a disease.
The pancreas and liver are also affected. The pancreatic duct is blocked and prevent the enzymes contained in pancreatic juice of the function of digestion of fats. These are evacuated by the intestine and cause chronic diarrhea, greasy and foul smelling, sometimes with episodes of acute dehydration.
Eventually, the pancreas becomes fibrous and diabetes may occur. Too viscous mucus can also block the transit, causing constipation or even obstruction and also to poor absorption of food, promoting growth retardation.

The diagnosis is usually done in childhood

In nearly 95% of cases, the diagnosis of cystic fibrosis occurs before the age of 2 years before the association of respiratory and digestive signs. In about 10% of cases, the diagnosis is covered from birth in cases of acute intestinal obstruction, meconium ileus, or related to obstruction of the intestine by a plug of meconium (raw slimy greenish brown or expelled shortly after the birth).
Neonatal diagnosis can be made by the determination of albumin in meconium: in case of cystic fibrosis, the presence of albumin in meconium reflects pancreatic insufficiency, due to the lack of secretion of an enzyme called trypsin. The latter can be assayed in blood from the 5th day of life until the 2nd month.
Prenatal screening may be offered to couples who had a child with cystic fibrosis because when both parents carry the gene, the risk of having a sick child is 1 in 4. This screening can be carried out in the 8th to the 10th week of pregnancy by the analysis of a biopsy of the placenta or not later than the 18th week a mix of intestinal enzymes in amniotic fluid. In case of positive result, any interruption of pregnancy may be considered according to the wishes of parents.
In children, the presence of clinical signs described above gives rise to the suspicion that the diagnosis be confirmed by a specific test for the disease, the sweat test: it is based on the fact that in case of cystic fibrosis sweat glands secrete une sueur salt, including sodium and chlorine is abnormally high. This test should be performed in a specialized laboratory and on two occasions to confirm the diagnosis.
This can be confirmed by a study looking for genetic mutations on chromosome 7.

Current treatment is symptomatic

Cystic fibrosis is a chronic disease requiring lifelong treatment, which should be initiated early in order to improve the quality of life. We must also consider the scalability of the disease differs from one person to another and from one organ to another. The evolution, generally slow, is pushed by, hence the need for close monitoring and appropriate treatment for each patient.

On the respiratory, physical therapy and bronchial drainage are essential for prevention and treatment of broncho-pulmonary complications. Practiced several times daily physical therapy is to remove bronchial secretions to avoid congestion. Respiratory gymnastics, among the largest child, comprehensive physiotherapy and helps maintain the patency of airways. In case of infection, treatment with antibiotics is routine, to avoid the installation of a chronic infection, fearful for lung function. Bronchodilators, administered by nebulization, may be given to facilitate the evacuation of secretions and fight against the narrowing of airways.
Vaccinations are also essential, including those against tuberculosis, pertussis, diphtheria, measles, influenza ...
Under medical supervision, regular exercise is recommended under medical supervision to improve breathing and facilitate coughing.