Cystic fibrosis or mucoviscidosis is a systemic inherited disease, caused by the mutation of cystic fibrosis transmembrane conductance regulator (CFTR) and characterized by exocrine gland involvement, and heavy disorders in the functions of breathing organs.
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70% of cases of the disease are diagnosed during the first two years of life. With introduction of newborn screening the time of exposure considerably reduced.
There are the following clinical forms of cystic fibrosis:
- mainly pulmonary form (respiratory, bronchopulmonary);
- mainly intestinal form;
- mixed form with the simultaneous gastrointestinal tract and breathing organs involvement;
- meconium ileus;
- atypical and effaced forms (oedematous-anaemic, cirrhotic and others).
Pathological changes in lungs are characterized the signs of chronic bronchitis with development of bronchiectasis and diffuse pneumosclerosis.
There is viscid content of mucous-festering character in the bronchial tubes lumen. Atelectasiss and areas of emphysema are not uncommon. In many cases the progress of pathological process in lungs is complicated with bacillosis (pathogenic yellow-green staphylococcus, haemophilus influenzae and pseudomonas aeruginosa) and by destruction.
The main cause of the disease is a mutation of CFTR gene that is localized in the middle of the 7th chromosome long shoulder. Mucoviscidosis is inherited as an autosomal-recession disease and is recorded with frequency 1:2000-1:2500 newborn in most countries of Europe. If both parents are heterozygous (are the carriers of the mutated gene), then the risk of birth of child with cystic fibrosis is 25%. Carriers of only one imperfect gene (alleles) do not suffer mucoviscidosis.
The first symptoms of bronchopulmonary form of mucoviscidosis are apathy, pallor of the cutaneous covering, insufficient increase of body weight at a satisfactory appetite. In some (heavy) cases, there is hacking cough from the first days of patient life that gradually increases and acquires pertussislike character. The cough is accompanied by the separation of thick sputum that becomes mucous-festering with adding bacterial flora.
Increased viscidity of bronchial secret results in occlusion of small bronchial tubes and bronchioles that promotes development of emphysema, and at the complete occlusion of bronchial tubes, forming of atelectasis. For the children of early age the parenchima of lung is quickly engaged in a pathological process that results in development of heavy, protracted pneumonia with inclination to abscess formation. The lungs involvement is always bilateral.
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