One of the ways to suspect if the baby has cystic fibrosis is to check if his sweat is more salty than normal, this is because this characteristic is very common in this disease. Although salty sweat is indicative of cystic fibrosis, the diagnosis is only made through the heel prick test, which must be performed in the first month of life. In case of a positive result, the diagnosis is confirmed by the sweat test.
Cystic fibrosis is a hereditary disease with no cure, in which some glands produce abnormal secretions that mainly affect the digestive and respiratory tracts. Its treatment involves medication, diet, physical therapy and, in some cases, surgery. The life expectancy of patients is increasing due to advances in treatment and the higher rate of adherence, with the average person reaching 40 years of age. Learn more about cystic fibrosis.
Symptoms of cystic fibrosis
The first sign of cystic fibrosis is when the baby is unable to eliminate meconium, which corresponds to the newborn's first feces, on the first or second day of life. Sometimes drug treatment fails to dissolve these stools and must be removed through surgery. Other symptoms that are indicative of cystic fibrosis are:
- Salty sweat;
- Persistent chronic cough, disrupting food and sleep;
- Thick phlegm;
- Repeated bronchiolitis, which is the constant inflammation of the bronchi;
- Respiratory tract infections that are repeated, such as pneumonia;
- Difficulty breathing;
- Tiredness;
- Chronic diarrhea or severe constipation;
- Loss of appetite;
- Gases;
- Greasy, pale-colored stools;
- Difficulty gaining weight and stunted growth.
These symptoms begin to manifest themselves in the first weeks of life and the child must receive the appropriate treatment to avoid a worsening of the condition. However, it can happen that cystic fibrosis is mild and the symptoms only appear in adolescence or adulthood.
How to confirm the diagnosis
The diagnosis of cystic fibrosis is made through the heel prick test, which is mandatory for all newborns and must be done until the first month of life. In cases of positive results, the sweat test is then performed to confirm the diagnosis. In this test, a little sweat from the baby is collected and evaluated, as some changes in sweat indicate the presence of cystic fibrosis.
Even with the positive result of the 2 tests, the sweat test is usually repeated to be sure of the final diagnosis, in addition to it being important to observe the symptoms presented by the baby. Older children who have symptoms of cystic fibrosis should have a sweat test to confirm the diagnosis.
In addition, it is important to carry out a genetic examination to check which mutation related to cystic fibrosis the baby has, because depending on the mutation, the disease may have a milder or more severe progression, which may indicate the best treatment strategy that should be followed. established by the pediatrician.
Know other diseases that can be identified by the heel prick test.
Treatment of cystic fibrosis
Treatment for cystic fibrosis should start as soon as the diagnosis is made, even if there are no symptoms, as the objectives are to postpone lung infections and prevent malnutrition and growth retardation. Thus, the use of antibiotics to combat and prevent possible infections may be indicated by the doctor, as well as the use of anti-inflammatory drugs to help relieve symptoms related to the inflammation of the lungs.
It is also indicated to use bronchodilator drugs to facilitate breathing and mucolytics to help dilute phlegm and facilitate elimination. The pediatrician may also recommend the use of supplements of vitamins A, E K and D, in addition to digestive enzymes to help digest food.
The treatment involves several professionals, because in addition to the use of medications, respiratory physiotherapy, nutritional and psychological monitoring, oxygen therapy to improve breathing and, in some cases, surgery to improve lung function or lung transplantation are also required. See how food can help treat cystic fibrosis.
Possible complications
Cystic fibrosis causes complications in several organs of the body, which can cause:
- Chronic bronchitis, which is generally difficult to control;
- Pancreatic insufficiency, which can lead to malabsorption of the food eaten and malnutrition;
- Diabetes;
- Liver diseases, such as inflammation and cirrhosis;
- Sterility;
- Distal intestinal obstruction syndrome (DIOS), where a blockage of the intestine occurs, causing cramps, pain and swelling in the belly;
- Gall stones;
- Bone disease, leading to greater ease of bone fractures;
- Malnutrition.
Some complications of cystic fibrosis are difficult to control, but early treatment is the best way to increase the quality of life and favor the child's proper growth. Despite having many problems, people with cystic fibrosis are usually able to attend school and work.
Life expectancy
The life expectancy of people with cystic fibrosis varies from person to person according to the mutation, sex, treatment adherence, disease severity, age of diagnosis and clinical respiratory, digestive and pancreatic manifestations. The prognosis is usually worse for people who are not treated properly, have a late diagnosis or who have pancreatic insufficiency.
In people who were diagnosed early, preferably right after birth, it is possible for the person to reach 40 years old, but for that it is necessary to carry out the treatment in the correct way. Find out how treatment for cystic fibrosis should be done.
Currently, about 75% of people who follow the treatment of cystic fibrosis as recommended reach the end of adolescence and about 50% reach the third decade of life, which was only 10% before.
Even if the treatment is done in the right way, unfortunately it is difficult for the person diagnosed with cystic fibrosis to reach 70 years, for example. This is because even with the proper treatment, there is progressive involvement of the organs, which makes them fragile, weak and lose their function over the years, resulting, in most cases, in respiratory failure.
In addition, infections by microorganisms are very common in people with cystic fibrosis and constant treatment with antimicrobials can cause the bacteria to become resistant, which can further complicate the patient's clinical condition.
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