Cystic fibrosis is a genetic disease that affects various organs of the body, mainly the lungs and digestive system. It is characterised by the production of thick mucus, which causes congestion in the airways of the lungs and a malfunction in the absorption of nutrients from the intestine. The diagnosis of cystic fibrosis is based on clinical evidence, but molecular detection has become an important factor for early diagnosis, follow-up and genetic counseling.

Molecular detection of cystic fibrosis involves the analysis of 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. The abnormality in this gene leads to problems in the regulation of salts and water, resulting in the production of thick mucus. Understanding the genetic background of cystic fibrosis is critical for effective diagnosis and treatment.

The diagnosis of cystic fibrosis has traditionally been based on the detection of elevated levels of chlorine in the patient's sweat (sweat test). However, molecular genetic detection has revolutionised this field, allowing early diagnosis even before the onset of clinical symptoms.

Molecular detection usually involves taking a DNA sample, which is tested for the presence of mutations in the CFTR gene. The most common mutations include Delta-F508 (DF508), which is the most common and causes severe manifestations of the disease. However, over 2000 different CFTR mutations have been identified, and analysis of these can help to personalise diagnosis and treatment strategies.Molecular detection also allows the diagnosis of carriers, i.e. individuals who have a 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 to avoid transmission of the disease to the next generation.

Molecular detection, in addition to diagnosis, also helps to monitor the progression of the disease. By identifying genetic mutations, doctors can tailor treatments to the needs of each patient. Personalised treatment based on genetic information is the future of cystic fibrosis treatment

Molecular detection of cystic fibrosis is therefore not only a tool for diagnosis, but also for improving the quality of life of patients, giving them better opportunities for prevention, monitoring and personalised treatment.