Cystic fibrosis (CF) is the most common inherited fatal disease of the Caucasian race.

Who has seen it?
In our country, 1 in every 3,000 babies is born with CF. Because cystic fibrosis is a hereditary disease, it can only be seen in a baby who inherits the disease gene from both parents. The mother does not show signs of illness. Because one of the two building blocks of the mother is solid. The father also shows the same characteristics as the mother. One of its two building blocks is solid. These parents are called "carriers." The probability of this disease in the child who will be born to a surrogate mother and father is 25%.

How is it formed?
The genetic disorder in patients affects all the secretory systems of the body, especially the respiratory tract, pancreas, gastrointestinal system, and sweat glands, by affecting the water and salt passages in the cell membrane. Normally, these glands have a thin, fluid secretion. In patients with CF, the consistency of these secretions increases, and their fluidity and purity are lost. Therefore, it has become difficult for people who have had this disease to produce sputum. Their discomfort begins with the obstruction of the small airways. Coughing, wheezing, pneumonia, and bronchitis are seen. The change in the fluid content secreted in the body causes microbes resistant to antimicrobials to settle in the lungs easily. This situation causes chronic (long-lasting) inflammation and long-term damage to the lungs.

Because of the disease, these secretions cannot be released, and because of the obstruction in the channels, these secretions cannot flow into the intestines, and the food taken cannot be digested. In CF patients, as a result of the insufficiency of the secretions of the pancreas and liver that provide digestion and their inability to flow into the intestines, the nutrients taken cannot be digested and absorbed sufficiently. Abundant, foul-looking, oily, and rather foul-smelling stools occur. The patient develops abdominal distension and gas. If the patient is not treated, they cannot gain enough weight, and their growth is retarded. What are the symptoms? Parental consanguinity, sibling death history, intestinal obstruction history, jaundice, salty taste when kissed in the newborn period; growth retardation in infancy, copious foul-smelling oily stools, recurrent respiratory tract infections, anemia, edema; In childhood and adolescence, recurrent wheezing attacks, unresolved or recurrent lung infections, intense inflammatory sputum production, chronic and persistent sinusitis, asthma, childhood diabetes mellitus, and delayed puberty are among the findings that strongly suggest the disease.

How is cystic fibrosis diagnosed?

Children's sweat is saltier than others, and families often notice this (especially when they kiss them). Salt crystals can sometimes be seen on the child's face or body during the summer season. Measuring the amount of salt in sweat is important for diagnosis and is the most valuable test. Quite simply and painlessly, a small device attached to the arm stimulates the sweat glands, collects sweat, and measures the chlorine content of the sweat. This test does not hurt the patient. Individuals with CF have high levels of chlorine in their sweat. A test result showing a high value at least twice is needed for the diagnosis of the disease. Borderline chlorine values may be seen in some mildly ill children. Your doctor's opinion on this matter is important. In cases where sufficient sweat cannot be collected, the test may need to be repeated. Gene mutation analysis is performed by taking blood from the diagnosed patients. Around 2,000 mutations (defects in the gene) have been identified in the gene that causes the disease. The diagnosis of the disease can be made definitively by demonstrating the mutation in the child's genes inherited from both parents. Failure to show the mutations screened does not mean that the child is not sick. Because the child may carry one of the remaining mutations or a mutation that has not been identified so far. It is also possible to identify mutations genetically by gene sequence analysis. If a patient who is known to have CF with a prenatal diagnosis will have a sibling, or if the baby is planned to be investigated for a similar disease in the family, close relatives are screened. While the baby is in the mother's womb, the membranes surrounding the baby are sampled (chorionic villus sampling) at 11 weeks or 16–17 weeks. A diagnosis can be made before birth by taking a sample of the fluid surrounding the baby (amniocentesis) over several weeks. If the baby is found to be sick, abortion can be performed with the family's permission.

What is the treatment?

While the disease was fatal in the early years of the last century, increased knowledge on the subject resulted in a significant increase in the life span of the patients. However, there is still no definitive treatment. Today, with early diagnosis and effective treatment methods used all over the world, these patients achieve very satisfactory results and can live a pleasant and active life. On the other hand, gene therapies are being investigated for the definitive treatment of the disease. The respiratory system is the source of the majority of complaints in cystic fibrosis patients. Respiratory physiotherapy should be applied in order to clear the sticky sputum caused by chronic inflammation in the trachea of the patients and should be done at least twice a day, every day. If the patient has an increase in cough and sputum, this application should be made at least 3–4 times a day. Early detection and effective treatment of infections in patients with cystic fibrosis are very important. Especially in periods when cough and sputum increase, appropriate antibiotic treatment should be started by mouth or by hospitalization. Nutrition is critical in cystic fibrosis patients, as it is in any long-term disease. Good nutrition under the supervision of a pediatric gastroenterologist, enzymes, and necessary vitamin supplements are important. Studies are ongoing for the definitive treatment of the disease. These studies focused on "gene therapy." Today, many studies are continuing on new drugs that can prolong the quality and duration of patients' lives.