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НАСЛЕДУЕМЫЕ МОНОГЕННЫЕ ЗАБОЛЕВАНИЯ

           

Cystic Fibrosis

Cystic fibrosis (CF) is an inherited disorder. The defect happens in the epithelial (or covering) cells of the lungs, digestive tract and other areas of the body and generates very sticky mucus segregations that can cause:

  • Obstructions and infections in the lungs and respiratory tracts
  • Malabsorption in the gastrointestinal (stomach and intestines) system

Cystic fibrosis is a disease that causes a pathological increase in the viscosity of the secretions. This mucus build up is difficult to thin. This situation favors the colonization of different germs in the lungs, causing an obstruction-inflammation-infection circle with a degeneration of the bronchial walls and the development of a bronchiectasis. The complications of this condition are the principal causes of the morbidity and mortality of the illness.

Cystic fibrosis is one of the most common types of chronic pulmonary illnesses in children and young adults, and is a potentially life-threatening disorder. The majority of children are diagnosed with cystic fibrosis at about two years of age. However, in a small number of children, the disease is not detected until they are about eighteen or older; these patients generally have a lighter form of the illness.

It is estimated that the incidence of cystic fibrosis in Spain is one in every 5000 live births, and one in every 35 inhabitants is a carrier.

GENE OR REGION STUDIED


  • CFTR