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What is cystic fibrosis?


Due to an abnormality of a gene, cystic fibrosis is a pathology that affects the respiratory and digestive tracts. The explanations of Dr. Thierry Bienvenu, geneticist at the Cochin hospital in Paris and university professor.

Cystic fibrosis, what is it?

  • Mucus is a fluid substance produced by the body which lines and humidifies the walls of different organs of the human body. In the case of cystic fibrosis, the mucus is thick and viscous. For lack of fluidity, the phlegm will stagnate and prevent the passage of air into the bronchi. These will then become clogged, which promotes the development of bacteria and infections by causing severe coughing and sputum.
  • The disease can also affect the digestive tract, affect the degradation of food and cause problems of digestion: abdominal pain, diarrhea, bowel obstruction, weight loss, constipation ...
  • There are different forms of cystic fibrosis, the severity of which varies.

How is it transmitted?

  • Cystic fibrosis is not a contagious disease. It is a pathology due to the abnormality of a gene, which is always transmitted jointly by the father and the mother. Both parents must transmit the genetic abnormality for the child to be affected.
  • Cystic fibrosis affects both boys and girls.
  • This pathology is the most common genetic disease in France. Every year, 200 children are born with HIV.

Can we detect cystic fibrosis?

  • In most cases, parents do not know that they carry a transfer (gene abnormality). That is to say, the disease does not express itself. They are healthy carriers (1 in 4200 in the general population).
  • In families where there have been cases of cystic fibrosis, consultation in genetics before conception of the child or during pregnancy is recommended. The geneticist will evaluate the probability of having a child with this disease and will suggest if necessary prenatal diagnosis (PND).

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