Table of contents:
- Main symptoms
- How to confirm the diagnosis
- Cause of Cystic Fibrosis
- How the treatment is done
- Possible complications
- Is cystic fibrosis curable?
Cystic fibrosis, or cystic fibrosis, is a genetic disease that affects a protein in the body, known as CFTR, which results in the production of very thick and viscous secretions, which are difficult to eliminate and thus end up accumulating inside various organs, mainly in the lung and digestive tract.
This accumulation of secretions can end up causing symptoms that affect quality of life, such as difficulty breathing, constant feeling of shortness of breath and frequent respiratory infections. In addition, there may still be digestive symptoms, such as the production of bulky, greasy and foul-smelling stools or constipation, for example.
Most of the time, symptoms of cystic fibrosis appear in childhood and the disease is diagnosed early, however, there are also people who have almost no symptoms and, therefore, may have a later diagnosis.In any case, treatment should be started as soon as possible, as it prevents the disease from getting worse and helps to control symptoms, when they exist.
Cystic fibrosis symptoms usually appear during childhood, but can vary from person to person. However, one of the most characteristic symptoms in cystic fibrosis is the production of sweat that is s altier than usual.
In addition, some other symptoms are also common, which may include:
- Feeling short of breath;
- Persistent cough, there may be phlegm or blood;
- Wheezing when breathing;
- Difficulty breathing after exercise;
- Chronic sinusitis;
- Frequent pneumonia and bronchitis;
- Recurrent lung infections;
- Yellow skin and eyes;
- Formation of nasal polyps, which corresponds to the abnormal growth of the tissue that lines the nose;
- Difficulty gaining weight;
- Joint pain;
- Sweat s altier.
Some people may also develop digestive symptoms such as bulky, greasy, foul-smelling stools, frequent diarrhea or constipation, poor digestion, and progressive malnutrition.
In babies, the first sign of cystic fibrosis usually happens when the baby is unable to pass meconium, which corresponds to the first stools, on the first or second day of life, but other signs can also be perceived as difficulty in gaining weight and delayed growth.
How to confirm the diagnosis
The diagnosis of cystic fibrosis can be made at birth using the heel prick test. However, to confirm the diagnosis, it is necessary to perform the sweat test and genetic tests that allow identifying the mutation responsible for the disease.
In addition, it is possible to carry out a carrier test, which checks the risk of the couple having children with cystic fibrosis, and this test is mainly performed by people who have a family history of the disease.
When the person is not diagnosed at birth or in the first months of life, the diagnosis can be made through blood tests with the purpose of searching for the mutation characteristic of the disease, or measurement of the levels of some enzymes in the blood that may be altered in cystic fibrosis. Pulmonary function tests, as well as chest radiography or computed tomography, may also be requested by the doctor, especially when the person has chronic respiratory symptoms.
Cause of Cystic Fibrosis
Cystic fibrosis is a genetic disease caused by mutations in the CFTR gene, which is related to the regulation of the flow of chlorine, sodium and water into and out of cells, playing an essential role in the functioning of the glands.
Under normal conditions, chloride and water leave the gland cells, which promotes lubrication of secretions. However, due to the presence of mutations, there is a change in the secretory function of these glands, resulting in more viscous secretions.
How the treatment is done
Treatment for cystic fibrosis is usually done with the use of medication prescribed by the doctor, respiratory physiotherapy and nutritional monitoring, to control the disease and improve the person's quality of life.
In addition, surgery can also be used in some cases, especially when there is obstruction of a channel or when severe respiratory complications occur.
1. Use of medication
Remedies for cystic fibrosis are used to prevent infections, allow the person to breathe more easily and prevent the appearance of other symptoms. Thus, the main drugs that can be indicated by the doctor are:
- Pancreatic enzymes, which must be administered orally, and whose objective is to facilitate the digestion process and the absorption of nutrients;
- Antibiotics to treat and prevent lung infections;
- Bronchodilators, which help keep the airways open and relax the bronchial muscles;
- Mucolytics to help clear mucus;
In cases where the respiratory system gets worse and the patient has complications such as bronchitis or pneumonia, for example, he may need to receive oxygen through a mask. It is important that the treatment indicated by the doctor is followed as prescribed so that the person's quality of life improves.
2. Diet adaptation
Nutritional monitoring in cystic fibrosis is essential, since it is common for these patients to have difficulty gaining weight and growth, nutritional deficiencies, and sometimes malnutrition.Thus, it is important to guide the nutritionist to complement the diet and strengthen the immune system, fighting infections. Thus, the diet of the person with cystic fibrosis should:
- Be rich in calories, as the patient is not able to digest all the food he ingests;
- Being high in fat and protein because patients do not have all the digestive enzymes and also lose these nutrients in the stool;
- To be supplemented with supplements of vitamins A, D, E and K, so that the patient has all the nutrients he needs.
The diet should start as soon as cystic fibrosis is diagnosed, being adapted as the disease progresses. Learn more about eating for cystic fibrosis.
3. Physical therapy sessions
Physiotherapeutic treatment aims to help release secretions, improve gas exchange in the lungs, clear the airways and improve expiration, through breathing exercises and devices.In addition, physical therapy also helps to mobilize the joints and muscles of the chest, back and shoulders through stretching exercises.
The physical therapist should be careful to adjust the techniques according to the person's needs to achieve better results. It is important that physiotherapy is performed from the moment the disease was diagnosed, and can be done at home or in the office.
4. Bowel surgery
Intestinal surgery is indicated when there is an intestinal obstruction caused by cystic fibrosis, allowing stool to pass through the intestine again.
5. Lung transplant
Lung transplantation may be indicated when pulmonary cystic fibrosis causes serious breathing problems that can put the person's life at risk or when the person is resistant to antibiotics, that is, these drugs are no longer able to control the infection pulmonary.
Cystic fibrosis does not reappear in the transplanted lung, however, other complications associated with cystic fibrosis, such as sinus infections, diabetes, pancreas disease, or osteoporosis, can still occur after a transplant.
Cystic fibrosis complications occur when treatment is not started or is not sufficient to combat the excess secretions produced, which can have consequences for the functioning of the respiratory and digestive system, for example.
Thus, bronchitis, sinusitis, pneumonia, nasal polyps, pneumothorax, respiratory failure, diabetes, biliary obstruction, liver and digestive problems, and osteoporosis may develop.
Is cystic fibrosis curable?
Cystic fibrosis has no cure, however, it is a disease that can be diagnosed soon after birth, allowing treatment to be done as soon as possible to help relieve symptoms, avoid complications and improve the quality of life. life.
The life expectancy of people with cystic fibrosis varies from person to person, according to sex, adherence to treatment, disease severity, and respiratory, digestive and pancreatic clinical manifestations.