As a rule, it is possible to diagnose cystic fibrosis at an early age, since it is characterized by a very characteristic symptomatology. But in a mild or slowly developing one-type form, this disease manifests itself poorly. Therefore it is important to know, in order to distinguish from other similar diseases directly cystic fibrosis - the symptoms and its external signs.
Disease of cystic fibrosis - what is it?
The ailment in question is, rather, a pathology. It arises from the mutation of a gene that is localized in the long arm of the seventh chromosome. The probability of getting sick is only if both parents are carriers of the damaged gene, and is 25%. Despite these conditions, the disease of cystic fibrosis affects a sufficient number of people, since a chromosome with a mutation is present for every 20th inhabitant of the planet.
Cystic Fibrosis in Adults - Symptoms
As already noted, the disease manifests itself in childhood, usually up to 2 years, and only 10% of patients have the first symptoms appear in adolescence and adulthood.
The main signs of cystic fibrosis are:
- lag in the development of the body, while the mental abilities are normal or even higher than usual;
- thickening of fingers along the entire length;
- polyps , protuberances in the nose;
- chronic diseases of the respiratory system with frequent recurrences;
- respiratory insufficiency;
- constantly exacerbated bronchitis, sinusitis, sinusitis;
- pancreatitis;
- a strong cough, usually at night, with the release of viscous or purulent sputum;
- disorders of the stomach and intestines;
- chronic cholecystitis;
- shortness of breath , asthma attacks;
- diseases of the genitourinary system, impotence.
The listed symptoms of cystic fibrosis are related to the fact that the damaged gene does not allow the body to produce a protein that is responsible for the normal course of water-electrolyte metabolism in the cells of internal organs. This leads to an increase in the density and viscosity of the fluid produced by most glands of internal secretion. Mucus stagnates, bacteria multiplies in it, and irreversible changes occur in the organs, especially in the lungs.
The intestinal form of cystic fibrosis is characterized by bloating, stitching, constipation and vomiting. These symptoms are amenable to treatment by taking medications with enzymes, but pulmonary manifestations of the disease continue to increase.
Cystic Fibrosis - Diagnosis
First, the presence of the most characteristic symptoms of the disease is checked - the viscosity of the secret of the internal hollow organs, exacerbation of chronic diseases of the respiratory system. After this, it is necessary to establish the presence of the mutated gene from the parents and to check the cases of morbidity in the family.
The most accurate analysis for cystic fibrosis is DNA. This test is the most sensitive, and it can be carried out even during pregnancy by examining the amniotic fluid. The number of false results does not exceed 3% and allows you to quickly diagnose without additional measures.
Determining the amount of fatty acids and chymotrypsin in the patient's stool is also one way to diagnose the disease. Normative indices of chymotrypsin are developed individually in each laboratory. The amount of acids that gives rise to suspicions of cystic fibrosis is more than 20-25 mmol per day.
A sweat test for cystic fibrosis with pilocarpine is a study of the concentration of chlorides in a liquid secreted by pores. The test should be tested at least three times to establish an accurate diagnosis.