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Cystic fibrosis is an inherited disease characterized by generalized dysfunction of the exocrine glands.

It is the most common fatal genetic disease of the white race and is inherited with the autosomal recessive character. In the Northern European area, the frequency of carriers is approximately 4-5%, while the frequency of patients is 1:2,000 to 1:2,500 live births. In our country, where we have a similar frequency of carriers, approximately 40 patient births are expected each year.

With better knowledge of the mechanisms of the disease and more aggressive treatment, the average survival time of patients from 6-7 years in the 1960s has exceeded 50 years for children born today, mainly due to the more effective treatment of respiratory system problems. In the coming years, it is expected that survival will increase even further with the widespread application of newer therapies that target the molecular damage of the disease.

Cystic fibrosis is caused by mutations in the gene called the regulator of transmembrane ion transport in cystic fibrosis. To date, more than 2,000 mutations have been identified, while a significant proportion of these are simple polymorphisms that do not lead to disease.

The main clinical manifestations of cystic fibrosis are attributed mainly to a disorder of the transmembrane transport of Cl– ions, resulting in the creation of viscous secretions that lead to obstructive lung disease and pancreatic insufficiency.

Although the timing of respiratory symptoms varies, they are usually evident from infancy. Infants present with cough, tachypnea, and/or wheezing that are triggered or exacerbated by common viral respiratory infections. In addition, they may also exhibit systemic symptoms, such as anorexia and fatigue.

Gastrointestinal manifestations, which occur in approximately 90% of patients, are malabsorption syndrome, due to the inability of the intestinal mucosa to absorb nutrients that have not been digested by pancreatic enzymes. The problem mainly concerns fat malabsorption, due to the inability to produce the enzyme lipase. Thus, despite adequate food intake, patients are malnourished, and their stools are bulky and foul-smelling.

Patients with cystic fibrosis have an increased risk of dehydration, especially if exposed to conditions that favor increased sweating.

The diagnosis is based on the clinical picture (respiratory, gastrointestinal system, dehydration) and the patient’s history (individual and perhaps family). It is confirmed by the quantitative determination of electrolytes in sweat (sweat test) or the detection of pathological mutations in both chromosomes.

Since both parents are proven carriers, prenatal diagnostic testing is necessary.

Mass screening of newborns is based on the determination of a protein (trypsinogen) in drops of blood, during the first days of life.

Patients are regularly monitored in a special outpatient clinic of hospitals, staffed with specialized personnel and appropriate infrastructure.

There is no radical cure for cystic fibrosis. The treatment mainly aims to treat the consequences of the disease from the respiratory and digestive systems.

In recent years, with the advent of new therapies that target molecular damage, a significant step has been taken towards controlling the disease. New innovative etiological therapies aim to repair or enhance the function of the pathologically affected protein. Gene therapy is in an earlier phase of development.