Cystic fibrosis (CF) is an inherited, chronic, progressive disease. It is estimated to affect approximately 160,000 people worldwide. According to the National CF Registry (Renafq), in South America, more than 10,000 patients have been diagnosed and in Argentina, approximately 1,500 patients are currently being followed.
CF alters the normal function of the exocrine glands (sweat, pancreatic enzymes, respiratory secretions, etc.) and causes damage to different organs of the body (such as the respiratory system, pancreas, liver, and reproductive system).
In the respiratory system, nearly all CF patients develop thick, viscous secretions that lead to mucus plugging that eventually blocks the bronchi and alters the breathing mechanism. More than 80% of patients affected the digestive system, suffering from pancreatic insufficiency, which prevents the proper absorption of food.
Sweat glands are also affected, very high levels of sodium and chlorine (salt), which makes their sweat saltier than usual, but on the other hand, it allows us to make a diagnosis, measuring the amount of chlorine and sodium in the body through sweating Sweat was significantly higher in CF patients.
CF is present before birth. It is an inherited disease and you cannot get CF or pass it on to other people. It is not an infectious disease. Nor does it affect intelligence, on the contrary, children with CF tend to be very bright, highly creative, and devoted to intellectual work; many of them will achieve extraordinary goals.
Detection and diagnosis
by newborn study
Like other diseases, it’s done by testing a drop of blood drawn from a newborn’s heel to detect high levels of a substance called trypsin in the blood of people with CF. This method is called TIR and is included in the research program in our country’s Law No. 24438 (passed in 1994).
A timely and adequate diagnosis of CF is critical to avoid unnecessary testing, provide adequate treatment, genetic counseling, and ensure access to specialized services.
Diagnosis is based on clinical criteria and laboratory studies.
CF should be suspected when:
l Chronic sinus pulmonary disease.
l Gastrointestinal or nutritional abnormalities.
l Salt loss syndrome.
l Azoospermia, or siblings with CF or positive newborn screening.
Pathology is confirmed by:
l At least 2 positive sweat test results, or the presence of 2 Cftr mutations that cause CF.
l Demonstration of abnormal nasal transepithelial potential differences.
symptom
l Salty sweat – Difficulty gaining weight – Growth retardation
l Large amounts of stool – steatorrhea (feces)
l Chronic cough – Respiratory tract infection – Nasal polyps – Infertility
l clubbing – diabetic cirrhosis
treat
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 basic goal of treatment is to prevent or control the progression of respiratory disease in order to avoid or reduce irreversible damage, which is the main prognostic marker.
l Comply with regular controls.
l To achieve early identification and treatment of exacerbations.
l Maintain adequate nutrition.
l Develop adaptation mechanisms.
l Establish positive health habits (sports, social activities, study, environmental control, etc.).
l Obtain adequate access and adherence to treatment, especially exercise therapy for the respiratory system.
The recommended control cycle is monthly for the first year of life and then every three months. Controls should be administered more frequently when patients: experience exacerbation of pulmonary symptoms. Nutritional status is not presented by age. Not gaining in weight and height as expected for your age. There is a psychological risk. Insufficient socioeconomic conditions. Do not insist on treatment.
Treatment of Respiratory Involvement
The extent of involvement depends on repeated infections associated with pre-existing lung inflammation in CF neonates. Once the infection is installed, a feedback process takes place. All drugs used must be subject to clinical efficacy and safety studies in accordance with current local laws and regulations.
Healing Pillars
respiratory system
l Preventive measures – Inhalation therapy – Daily respiratory kinematics – Anti-inflammatory drugs – Antibiotics for pulmonary exacerbations – Infection control measures – Treatment of complications – Acceptable compliance.
sinuses
People with cystic fibrosis may have more nasal polyps (flesh growths inside the nose) than usual.
A buildup of nasal polyps and mucus can lead to infection and sinusitis (inflammation or swelling of the sinuses). This can cause nasal congestion, headaches, coughing, and in some cases, loss of smell.
reproductive system
Men with CF can produce sperm, but the tubes (vas deferens) through which sperm travel may not form or may be blocked with mucus. This could mean that men with CF may not ejaculate or ejaculate very little, even if intercourse is normal.
Although a small percentage of men with CF may be able to conceive naturally, most men are infertile. This infertility can also be seen in males who are CF carriers.
In women with CF, thick mucus in the reproductive system can reduce fertility.
For women with cystic fibrosis who are considering having a child, assisted reproductive technology may be helpful and should be discussed with a doctor.