Cystic fibrosis affects the respiratory and digestive system. It is due to a defective gene inherited from both parents.

European Day awareness of cystic fibrosis, 21 November, is an opportunity to learn more about this disease. There was not so long ago, she was very well known. But the death in 2007 of an exceptional singer Gregory Lemarchal, itself affected by cystic fibrosis, have strongly influenced the minds and brought to light this terrible disease. Moreover, the association Gregory Lemarchal was established after his death to educate the general public.

6000 people in France, according to French registry of cystic fibrosis

* In our country, the CF is the first fatal genetic disease in children. This is a condition that can not be seen and is not contagious. It affects both girls and boys.Different from one patient to another, there is not but cystic fibrosis cystic fibrosis. Patients are more or less affected lungs.

* 2 million French are unknowingly carry the gene, which is about 6000 people. Each year, there are 200 babies born affected by cystic fibrosis, 1 child 4200. Since 2002, newborn screening is systematic.

* Today, life expectancy is 46 years, when she was only 7 years old in 1965, although the average age of death is around 24 years.

cystic-diseases

Transmission and symptoms of cystic fibrosis

Defective chromosome 7 is responsible for cystic fibrosis. That the disease occurs, it is necessary that both genes are defective. Indeed, if the subject does not possess a single fault, it is not itself affected. It is therefore supporting “healthy”. Evil is when both parents pass heredity. In cystic fibrosis, mucus viscosity ago. In fact, our body produces mucus fluid, but in this case, it is thick and sticky, which causes problems with the lungs and digestive system. Patients with chronic cough with sputum important, often causing infection. Daily care of chest physiotherapy are essential, also with a power-off or regular antibiotics that is orally or by aerosol. On the other hand, pancreas enzymes which remain blocked, is causing loss of weight. Intestines and liver can also be affected.

A promising treatment against cystic fibrosis

Recently, patients saw a new hope arise because until now only care allowed to delay the onset of symptoms and slow the disease. This new treatment, oral the Activator, is the first drug that acts directly on the causes and has positive effects on lung function, weight gain and recurrent infections.This is Case Western Reserve University in Cleveland who has conducted a clinical trial Phase 3 161 patients aged 12 years and over. All carry a rare genetic mutation called G551D that affects 4 to 5% of people with cystic fibrosis. A significant improvement was observed in patients after treatment for 418 days at a rate of twice per day. Patient follow-up will last another year. This is consistent in advanced cystic fibrosis. A new breath to hope one day defeat cystic fibrosis.