Cystic fibrosis is one of the most common severe hereditary diseases in the Caucasian population. The prevalence of the disease in new-borns is 1/6500, corresponding to the population carrier frequency of as much as 1/40. The incidence and subsequent development of this disease are caused by mutations in the CFTR gene. The most common mutation called F508del is involved in the pathogenesis of the vast majority of cases in the Caucasian population. The disease belongs to the so-called autosomal recessive disorders when the affected individual inherits the pathogenic form of the gene mutation form from each of the parents. The parents themselves are asymptomatic carriers and the probability of the disease in the offspring of such parents (carriers) is 1/4, i.e. 25%. Cystic fibrosis is a disease that affects multiple organs. In neonatal age, about 1 in 5 children with cystic fibrosis suffer from bowel obstruction caused by extremely thick meconium.

Another symptom of this disease in the newborn is the prolonged duration of neonatal jaundice. Throughout life, patients suffer from recurrent inflammations of the airways affecting both the upper respiratory tract and the lungs. The accompanying symptom of this disease is a choking cough with coughing up of purulent mucus containing bacteria typical of CF. Gastrointestinal and hepatic disorders are predominant among non-respiratory symptoms. Most men (98%) with cystic fibrosis are infertile. Female infertility is less common, 80% of women may become pregnant and even carry a healthy newborn, however, the delivery is more difficult due to the viscous mucus present in the cervix, which makes it difficult for sperm to pass through to the egg.

It is a severe hereditary disease with an autosomal recessive type of heredity, in which the affected individual inherits mutations from both biological parents who are asymptomatic carriers and the probability of the disease in the offspring of such carrier parents is 1 : 4, i.e. 25%. The prevalence of the disease in newborns is 1 : 15,000, corresponding to a carrier frequency of up to 1 : 60. The test results in the detection of pregnancies with “low risk” or “high risk” of the fetus being affected by the disease as well as the identification of asymptomatic carriers of this mutation. The clinical manifestations of this disease vary in severity from severe disability to death or fetal miscarriage. Clinical symptoms include cleft palate, syndactyly (most commonly fused fingers include index finger and middle finger), facial dysmorphia (anatomical changes in the newborn’s face), microcephaly (small head), heart, lung, liver, kidney, adrenal, pancreatic and brain malformations.

Prenatal and postnatal growth retardation (slowed growth), and mental disability are also common. Men with this disease may suffer from genital abnormalities – incomplete formation of the urethra. Individuals affected by the disease also experience a wide range of behavioral abnormalities (autism, aggression, hyperactivity, frequent mood swings, anger outbursts, self-harm, mental retardation or delayed speech development). Other manifestations include inadequate production of steroid hormones, bile acids with subsequent low absorption of fats and fat-soluble vitamins.