Cystic fibrosis (CF) is a genetic, chronic and progressive disease. It is estimated that around 160,000 people worldwide suffer from it. According to the National CF Registry (Renafq), there are more than 10,000 diagnosed patients in South America, and about 1,500 patients are currently under observation in Argentina.
CF alters the normal function of the exocrine glands (sweat, pancreatic enzymes, respiratory secretions, etc.) causing damage to various organs of the body such as the respiratory system, pancreas, liver, and also the reproductive system.
In the respiratory system, almost all patients with CF secrete thick and sticky secretions that form mucous plugs that clog the bronchi and change the mechanics of breathing. More than 80% of patients are affected by the digestive system, have pancreatic insufficiency, which prevents proper absorption of food.
The sweat glands are also affected, and the amount of sodium and chloride is very high (salt), which makes their sweat saltier than usual, but makes it possible to make a diagnosis by measuring the amount of chloride and sodium in the blood. the body sweats with a sweat test, which is significantly elevated in a CF patient.
MV existed even before birth. This is a hereditary genetic disorder and you cannot get CF or pass it on to other people. This is not an infectious disease. It also does not affect intellectual ability, on the contrary, children with CF tend to be very intelligent, extremely creative and dedicated to intellectual work; Many of them achieve outstanding goals.
Detection and diagnostics
neonatal research
As with other diseases, a drop of blood taken from a newborn’s heel is exposed to a substance that is found in high amounts in the blood in CF called trypsin. This method is called TIR, and in our country Law 24438 (adopted in 1994) includes it in research programs.
It is essential to confirm the diagnosis of CF in a timely manner and with a high degree of adequacy, to avoid unnecessary investigations, to ensure adequate treatment, genetic counseling and access to specialized services.
Diagnosis is based on clinical criteria and laboratory tests.
CF is suspected when:
l Chronic sinus-pulmonary disease.
l Gastrointestinal or nutritional disorders.
l Salt loss syndrome.
l Azoospermia, or a sibling with CF or positive neonatal screening.
Pathology confirmed:
l At least 2 positive sweat tests or 2 Cftr mutations causing CF.
l Demonstration of abnormal nasal transepithelial potential difference.
Symptoms
l Salty sweat – Difficulty gaining weight – Stunting
l Large stools – Steatorrhea (feces)
l Chronic cough – Respiratory infections – Nasal polyps – Infertility
l Flexion of fingers – diabetes, cirrhosis of the liver.
Care
l Prevention and treatment of respiratory diseases.
l Prevention and treatment of nutritional deficiencies.
l Prevention and treatment of other manifestations or complications.
Mental health care.
The main goal of treatment is to prevent or control the progression of the respiratory disease in order to avoid or reduce irreversible damage, which is a major prognostic marker.
l Observe periodic inspections.
l Ensure early recognition and treatment of exacerbations.
l Maintain adequate nutrition.
l Develop adaptation mechanisms.
l Build positive health habits (sports, community activities, education, environmental management, etc.).
l Ensure adequate access to and adherence to treatment, especially kinesiotherapy of the respiratory system.
The recommended frequency of monitoring is once a month in the first year of life, and then every three months. Monitoring should be carried out more often if the patient has: Exacerbation of the lungs. Present nutritional status regardless of age. Do not increase weight or height as expected for your age. There is a psychological risk. It is in inadequate socio-economic conditions. Do not follow the treatment regimen.
Treatment of damage to the respiratory system
The extent of involvement is determined by recurrent infections associated with inflammation of the lungs that already exist in neonates with CF. Once the infection is installed, a feedback process takes place. All medicines used must be clinically tested for efficacy and safety in accordance with applicable local laws and regulations.
Fundamentals of treatment
respiratory
l Preventive measures – Inhalation therapy – Daily respiratory kinesiology – Anti-inflammatory drugs – Antibiotics for pulmonary exacerbations – Infection control measures – Treatment of complications – Acceptable adherence.
sinuses
People with CF may have more nasal polyps (fleshy growths inside the nose) than usual.
The accumulation of polyps and mucus in the nose can lead to infections and sinusitis (inflammation or swelling of the sinuses). This can cause nasal congestion, headaches, coughing and, in some cases, loss of smell.
reproductive system
A man with cystic fibrosis can produce sperm, but the tubes that carry sperm (the vas deferens) may not form or become clogged with mucus. This may mean that although intercourse is normal, a man with CF may not ejaculate or regurgitate little semen.
Although a small percentage of men with CF can become pregnant naturally, most of them are infertile. Such infertility can also be seen in male CF carriers.
In women with CF, thick, sticky mucus in the reproductive system can reduce fertility.
For those women with CF who are thinking about having children, assisted reproductive techniques may be helpful and should be discussed with a doctor.
