Cystic fibrosis is the most common fatal genetic disease in the caucasian race. It is inherited autosomal recessively. The incidence rate is 1/2,500. In Turkey, the estimated incidence rate is 1/3000. Cystic fibrosis affects the pancreas, liver, kidneys, intestines, and mostly the lungs. While it was defined as a fatal childhood disease in the last century, the life expectancy of patients today has prolonged significantly.
Newborn screening is critical in the diagnosis and detection of symptoms of cystic fibrosis. Signs and symptoms of cystic fibrosis vary depending on the severity of the disease. Symptoms may progress or regress over time even in the same person. In some patients, symptoms may not be observed until adolescence or adulthood. People with cystic fibrosis have a higher rate of salt in their sweat than normal people. Even when parents kiss their children, they may notice the excess salt in their sweat. The majority of other symptoms occur in the respiratory system or digestive system. However, atypical symptoms such as pancreatitis, diabetes, and infertility can also be present.
Symptoms due to the thick and sticky mucus obstructing the respiratory tract in cystic fibrosis:
- Productive persistent cough
- Stertorous respiration
- Shortness of breath
- Exercise intolerance
- Recurrent lung infections
- Non-healing sinusitis and nasal polyp
Digestive System Findings:
The pathway that carries digestive enzymes from the pancreas to the small intestine is blocked. After this blockage, we cannot use digestive enzymes. The symptoms that occur due to the inability to digest the food we eat are:
- Foul-smelling, greasy stools
- Growth retardation
- Meconium ileus
When should you see a doctor?
If your family or relatives have a history of cystic fibrosis, you can have your child tested in the neonatal period. If your child has difficulty breathing, please consult your doctor.
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