What is cystic fibrosis?

Cystic fibrosis, also known as mucoviscidosis, is a genetic disorder inherited in an autosomal recessive pattern. This means a child inherits the condition when they receive one mutated copy of the CFTR gene from each parent. According to Einstein’s pediatric pulmonologist Luiz Vicente Ribeiro Ferreira da Silva Filho, the main characteristic is the accumulation of thicker and stickier secretions in the lungs, digestive tract, and other organs.

The disease primarily presents with respiratory and gastrointestinal symptoms, as well as excessive chloride in sweat. Caused by mutations in the CFTR gene, cystic fibrosis can vary widely in presentation depending on the degree of gene dysfunction. These mutations lead to a malfunctioning CFTR protein, resulting in thick secretions that block the lungs and pancreas, among other organs.

“Pancreatic insufficiency leads to poor digestion of fats and proteins, causing malnutrition due to poor nutrient absorption,” explains the pulmonologist. Early diagnosis is crucial. Today, it can be detected at birth through the heel prick test. “Newborn screening is very important. Measuring immunoreactive trypsinogen can help detect suspected cases early, improving prognosis and survival rates,” says Silva Filho. Diagnosis is confirmed through a sweat test and genetic testing.

Symptoms

In the neonatal period, symptoms may include intestinal blockage, difficulty gaining weight, productive cough, and unexplained dehydration.

As the patient grows, symptoms may include weight loss, progressive malnutrition, chronic cough with thick mucus, chronic sinusitis, nasal polyps (mucosal growths forming pseudotumors in the nose), liver disease (biliary cirrhosis), diabetes, respiratory infections and infertility.

Main complications include pulmonary bleeding, severe infections, pneumothorax (air leakage from the lungs) and intestinal obstruction.

Treatment

Treatment is multidisciplinary, involving doctors, nutritionists, physical therapists, nurses, psychologists, and social workers, all aiming to improve quality of life and life expectancy.

“For young children, the main focus is proper nutrition. High-calorie diets and pancreatic enzyme replacement can help prevent malnutrition, which worsens lung disease. The more malnourished the patient, the worse the lung function,” says the specialist.

To improve respiratory symptoms, treatments include mucus-thinning therapies, nebulization with special medications, respiratory physiotherapy to help expel mucus and inhaled antibiotics.

Although there is no definitive cure, treatment is essential to slow disease progression. In recent years, new medications that correct the underlying defect of cystic fibrosis have been developed and are undergoing approval Brazil, offering great hope. These drugs are mutation-specific, making genetic testing essential — a step toward personalized medicine.

Despite the treatment burden, patients can lead normal lives, attend school, work, and more. Life expectancy continues to improve, and in many countries, there are now more adults than children living with cystic fibrosis — a strong indicator of progress. Early diagnosis remains critical to ensure proper nutrition and prevent respiratory damage.

For advanced cases, lung transplantation is a treatment option. “Cystic fibrosis patients are among those with the best outcomes from this type of treatment,” says Silva Filho.

By Einstein Editorial Board