Cystic Fibrosis
Cystic fibrosis is a genetic disease that affects several organs of the body, mainly the lungs and the digestive system. It is characterised by the production of thick, sticky mucus, which clogs the airways of the lungs and impairs the absorption of nutrients in the intestine. The diagnosis of cystic fibrosis is based on clinical signs, but molecular testing has become an important factor in early diagnosis, monitoring and genetic counselling.
Molecular testing for cystic fibrosis involves the analysis of the genes associated with the disease. The main gene responsible for cystic fibrosis is CFTR (cystic fibrosis transmembrane conductance regulator), which encodes a protein that regulates the transport of chloride and sodium ions across cell membranes. An abnormality in this gene leads to problems in the regulation of salt and water, resulting in the production of thick mucus. Understanding the genetic background of cystic fibrosis is crucial for its effective diagnosis and treatment.
The diagnosis of cystic fibrosis was traditionally based on the detection of elevated chloride levels in the patient’s sweat (sweat test). Molecular genetic testing, however, has revolutionised the field, allowing early diagnosis even before clinical symptoms appear.
Molecular testing usually involves taking a DNA sample, which is examined for the presence of mutations in the CFTR gene. The most common mutations include Delta-F508 (ΔF508), which is the most frequent and causes severe manifestations of the disease. Nevertheless, more than 2,000 different CFTR mutations have been identified, and their analysis can help personalise the diagnosis and treatment strategies. Molecular testing also allows the diagnosis of carriers, that is, people who have one copy of the mutated gene without showing the clinical symptoms of the disease. This is particularly useful in prenatal diagnosis and in genetic counselling for couples planning to have children. Identifying carriers and understanding the genetic risks can help prevent the disease from being passed on to the next generation.
Besides diagnosis, molecular testing also contributes to monitoring the progress of the disease. By identifying the genetic mutations, doctors can tailor treatments to the needs of each patient. Personalised treatment based on genetic information is the future of cystic fibrosis therapy.
Molecular testing for cystic fibrosis is therefore not only a diagnostic tool but also a means of improving patients’ quality of life, giving them better options for prevention, monitoring and personalised treatment.
