Ramón Agüero, pulmonologist: "Thanks to new treatments, many people with cystic fibrosis are leading normal lives."

Cystic fibrosis is one of the most common serious genetic diseases in Spain, occurring in one in every 5,000 to 7,000 births. Not only that, but it is estimated that one in every 35 Spaniards is a healthy carrier of the disease.

According to Dr. Ramón Agüero Balbín, former head of Pulmonology at the Marqués de Valdecilla Hospital and specialist in Pulmonology at the Rodero Center and member of Top Doctors Group, "cystic fibrosis (CF) is an inherited disorder, a chronic genetic disease, which primarily affects the cells that produce mucus, sweat and digestive juices, causing thick, sticky mucus that can cause obstructions in the bronchi, pancreatic ducts and excess salt in sweating."

What causes cystic fibrosis?

As this expert explains, "cystic fibrosis is caused by a mutation in the transmembrane conductance regulator (CFTR) gene, which is responsible for synthesizing a specific protein that regulates the cellular flow of water and chloride, the movement of salt into and out of cells. A mutation in this gene disrupts protein production, resulting in thick, sticky mucus in the respiratory, digestive, and reproductive systems, as well as salt buildup in sweat. There are many different defects in this gene, and the type of genetic mutation is associated with varying degrees of severity of the condition."

And he adds: "The transmission of this disease is autosomal recessive, that is, for a person to manifest the disease they must inherit a copy of the mutated gene from each parent, because if they only inherited one mutated copy and one healthy copy of this gene, they would become a carrier of the disease, but would not develop it."

Symptoms to identify pneumonia

Taking all this into account, symptoms vary primarily depending on the intensity and progression of the process. The signs can also vary depending on the organs affected.

For example, says Agüero, when the respiratory system is affected, the bronchial tubes become obstructed due to an increase in thick, viscous mucus, and this can result in symptoms such as:

Similarly, in the digestive system, cystic fibrosis (due to obstruction of the ducts that transport digestive enzymes from the pancreas to the small intestine, which makes it difficult to absorb nutrients in food) causes:

Finally, other symptoms that, according to the doctor, may appear are:

How is it diagnosed?

"The diagnosis of cystic fibrosis," Agüero explains, "is fundamentally based on the detection of mutations in the CFTR gene, and in this sense, the incorporation of this test into the neonatal screening carried out for other genetic diseases has been a key factor, since an early diagnosis leads to more specific treatment, the prevention of late complications, and a better prognosis for the process."

And he continues: "A diagnostic approach is also based on the detection of a high level of chlorine in sweat, and later on specific tests from a respiratory (radiology, spirometry, sputum cultures) or digestive (intestinal malabsorption, etc.) perspective."

How it is treated

The expert points out that "cystic fibrosis has no complete cure," but emphasizes that "there are important therapeutic advances that have led to significant improvements in patients' quality of life and a significant reduction in the resulting complications."

This is how our intestinal flora fights infections, according to science

Some of these options include:

"Thanks to these treatments and prenatal genetic counseling, patients' life expectancy and quality of life have significantly increased in recent years, allowing them to lead practically normal lives in many cases," Agüero concludes, "although constant and regular medical monitoring is required to assess progress and prevent complications."

Do you want to receive the best content to take care of your health and feel good? Sign up for our free newsletter.