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What is cystic fibrosis?

Cystic fibrosis (CF), also known as mucoviscidosis and popularly called "salty kiss disease", is a genetic disease that affects the respiratory, digestive, and reproductive systems, involving the abnormal production of thick mucus in the lungs, which can lead to fatal lung infections. The disease can also result in obstructions of the pancreas, making digestion difficult.
 
These manifestations are caused by abnormalities in the cystic fibrosis transmembrane receptor (CFTR), present in the epithelial cells of the pulmonary mucosa, which promotes increased resorption of sodium and water and dehydrates the pulmonary secretions, rendering them excessively viscous. This drying of the mucus obstructs the airways, facilitating the development of bacterial infections and an intense inflammatory response.

The affected individual has two deficient genes, one of maternal origin and the other of paternal origin. When parents of these genes conceive a child, there is a 25% chance of transmitting the disease to the child, a 50% chance of the child inheriting the cystic fibrosis gene, and a 25% chance that the child will not inherit the gene.

What are the symptoms and clinical manifestations?

Individuals with cystic fibrosis may exhibit various symptoms such as: salty sweat, persistent coughing, sometimes with discharge (phlegm), wheezing or shortness of breath, excessive appetite with low body weight gain and fat and bulky stools. The severity of cystic fibrosis can vary from person to person, regardless of age, and can be determined primarily by the extent of lung involvement.

How is it diagnosed?

The diagnosis of cystic fibrosis is clinical and can be confirmed by the detection of high levels of sodium chloride in sweat or by genetically identifying two mutations for cystic fibrosis associated with pulmonary function tests to monitor respiratory disease.

How is it treated?

The treatment of pulmonary manifestations of all patients with cystic fibrosis should include a program of respiratory physiotherapy, hydration and treatment of respiratory infections with antibiotics, anti-inflammatory agents and fluidification of secretions with the use of osmotic and mucolytic agents.

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