How to tell if your baby has cystic fibrosis

One of the ways to suspect if the child has cystic fibrosis is to observe whether his sweat is more salty than normal, however the diagnosis of this disease is 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.

Symptoms of cystic fibrosis

The first sign of cystic fibrosis is when the baby is unable to eliminate meconium, the newborn's first feces, on the first or second day of life. Sometimes drug treatment fails to dissolve these stools, and they need to be removed through surgery. Other symptoms of this disease are:

• Salty sweat; Persistent chronic cough, disrupting food and sleep; Thick phlegm; Repeated bronchiolitis, which is the constant inflammation of the bronchi; Repeated respiratory tract infections, such as pneumonia; Difficulty breathing; Tiredness; Chronic diarrhea or prison severe belly; loss of appetite; gases; fatty, 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 the cystic fibrosis is mild and the symptoms only appear in adolescence or adulthood.

Lack of appetite

Constant cough

Diagnosis of cystic fibrosis

The diagnosis of cystic fibrosis is made through the heel prick test, which is mandatory for newborns, and in order to have a reliable result, it is important that the baby is taken to be tested before 30 days 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 established by the pediatrician.

See what other problems can be identified in this test at: Diseases detected 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. Various remedies are used in the treatment, such as:

• Antibiotics: prevent and treat infections by bacteria; Anti-inflammatories; Bronchodilators: facilitate breathing; Mucolytics: help dilute phlegm; Digestive enzymes: help digest food Supplement of vitamins A, E, K and D.

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 this disease in: food for cystic fibrosis.

In Brazil there are several associations for parents who have children with cystic fibrosis, who bring information about the disease and how to live better with it. The support and knowledge of the family is essential for a better treatment result.

Complications of cystic fibrosis

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 it occurs a blockage of the intestine, causing cramps, pain and swelling in the belly; stones in the gallbladder; 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 at 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 have pancreatic insufficiency.

In people who were diagnosed early, preferably right after birth, it is possible for the person to reach the age of 40, 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 correctly, 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 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.