Cystic fibrosis: causes, symptoms and picture of the disease in Brazil

*This text has been written based on information received from health institutions and authorities, hospitals and health professionals. If you or someone you know has any of the symptoms described here, our recommendation is to seek medical attention as soon as possible.

genetic disease, cystic fibrosisAlso known as mucocidosisIt can affect people of both sexes and is characterized by dysfunction of the exocrine glands that produce mucus, sweat, or pancreatic enzymes.

About 20% of the population are asymptomatic carriers. cystic fibrosis. The disease mostly affects the white population and is rarer in blacks and Asians. In highly mixed countries such as Brazil, the disease can manifest itself in the general population. Learn more about its causes and symptoms below.

Causes and diagnosis of cystic fibrosis

For a person to be a carrier cystic fibrosis you must inherit the defective gene from both your father and mother, who may be healthy but are carriers of the gene. Those who inherit only one copy do not develop the disease, but become carriers and can pass the gene on to their offspring.

The defective gene responsible for the disease causes changes in the transport of ions across the membranes of the carrier’s cells. Thus, the exocrine glands are compromised – and the more viscous mucus is retained in the lungs and digestive tract.

Because the cause is genetic, the disease can be diagnosed early with foot testing, which is helpful at the start of treatment in early childhood. The longer it takes for the disease to be detected, the more harm it does to the carrier.

This cystic fibrosis It can also be diagnosed by sweat testing, which detects sodium chloride levels in the body, and genetic testing, which identifies the most common types of the disease – in about 80% of cases.

Cystic Fibrosis Symptoms

Thick mucus buildup in the lungs can cause breathing problems and increase the risk of lung infections. Over time and the symptoms worsen, the lungs may stop working properly.

Mucus also clogs the pancreas (the organ that serves in digestion), making it difficult to digest by preventing the enzymes it produces from reaching the food in the intestine. This prevents proper absorption of nutrients from food and forces the patient to consume more calories to avoid malnutrition.

symptoms cystic fibrosis To involve:

• recurrent chest infections;
• wheezing in the chest;
• cough – may be bloody;
• Shortness of breath;
• Damage to the airways (bronchiectasis);
• nasal polyps;
• nasal congestion;
• Difficulty gaining weight and growing;
• jaundice (characterized by yellow skin and whites of the eyes);
• pneumothorax;
• severe abdominal swelling;
• dehydration;
• not enought feeding;
• Gastrointestinal symptoms such as diarrhea, constipation, or foul-smelling, greasy stools.

Intestinal obstruction may occur in newborns due to meconium accumulation and surgery may be required.

This cystic fibrosis It may also be responsible for the development of liver problems and related conditions such as diabetes, osteoporosis, male infertility and decreased fertility in women.

cystic fibrosis treatment

although there is no cure mucocidosisThere are several treatments available to help control symptoms and prevent or reduce complications of the disease. Regular consultations are necessary to monitor the situation and create an action plan based on the patient’s needs.

with people cystic fibrosis They may also need medicine to prevent or treat lung problems. The most common include antibiotics, medications that thin the mucus in the lungs and help reduce mucus levels in the body, bronchodilators, and steroids.

Physical activity and the use of airway clearance techniques also help clear mucus from the lungs.

Having carriers is very important. cystic fibrosis Keep vaccination calendar practices up to date, especially annual flu shots.

Nutritional monitoring is also necessary to prevent malnutrition. Recommendations include a high-calorie diet, vitamin and mineral supplements, and the use of digestive enzyme capsules with food to aid digestion.

In very severe cases, lung transplantation may be recommended.

cystic fibrosis in Brazil

The average occurrence of the disease is one case per 10,000 live births. In São Paulo State, one in every 6,800,000 live births per year has the disease. Currently, 162 children and adolescents are being treated in the Rare Diseases Clinic of the João Paulo II Children’s Hospital.

In total, cystic fibrosis It affects between 2.7 and 5.4 thousand people in Brazil and about 70,000 people worldwide.

As a way to prevent new cases, those with close relatives with cystic fibrosis can get genetic testing before having children.

The life expectancy of carriers is unfortunately reduced. But advanced screening and treatments allow people with the condition to live for at least 40 years – some living into their 50s.

More information is available from the Brazilian Cystic Fibrosis Working Group.