What is cystic fibrosis, its symptoms and treatment methods

While the CFTR gene regulates the passage of sodium and chloride ions in the body’s glands during its normal functioning, it can no longer function due to a mutation. This dysfunction affects the normal functioning of the glands and causes the production of thick, sticky mucus. Thick and sticky mucus can cause congestion, inflammation, and infection. Lung is the most common organ for CF, which can affect the lungs, pancreas, liver, intestines, and other organs.

Although the average life expectancy of people with CF is shorter than that of healthy people, this period is getting longer and quality of life continues to improve with advances in treatment and care in recent years. Symptoms, diagnosis and treatment methods of CF can be summarized as follows.


Cystic fibrosis (CF) has a wide variety of symptoms that can vary from person to person. These symptoms can be seen in many systems, especially in the respiratory and digestive systems.

Symptoms of the respiratory system

– Chronic cough: Persistent and prolonged cough is one of the most common symptoms of CF patients. Coughing is caused by mucus buildup in the airways.
– Sputum: Dense and thick sputum production is one of the symptoms of the disease.
– Respiratory tract infections: Patients with CF may be prone to severe and recurrent respiratory tract infections. Bacterial infections are especially common and can lead to bronchiectasis over time.
– Shortness of breath: Shortness of breath occurs due to airway obstruction or lung damage, and respiratory failure occurs over time.

Symptoms of the digestive system

– Pancreatic damage: The pancreatic glands of CF patients may lose their ability to produce normal digestive enzymes. This can lead to digestive problems such as fatty stools, weight loss, malnutrition and stunted growth.
– Diarrhea or constipation: Problems with the digestive system can cause symptoms such as diarrhea or constipation in CF patients. Meconium ileus in infants may be the earliest manifestation of CF.
– Abdominal pain: Abdominal pain and discomfort can occur due to problems with the digestive system.

Other symptoms

Salty sweat and skin: The sweat of patients with CF may contain more salt than normal, which can make their skin look salty.
– Reproductive problems: Infertility can occur in male patients due to obstruction of the sperm transport ducts. At the same time, reproductive problems can be seen in women.
– Growth retardation: growth and weight gain may be delayed in children.


The following tests are used to diagnose CF and evaluate the effects of the disease on organs:

1. Screening Test: Screening test helps to diagnose early in childhood. This test measures the level of IRT (Immune Reactive Trypsinogen) secreted by the pancreas in a blood sample taken from the baby’s heel.

2. Genetic testing: The main cause of CF is a mutation in the CFTR gene. This gene mutation can be detected by analyzing DNA samples from biological material such as blood or saliva samples. Genetic testing is important in confirming a diagnosis of CF and also helps determine the risk of carrier status or disease in other family members.

3. Sweat Test: Sweat test is diagnostic in most patients with CF with typical clinical findings, but sweat chloride levels may not be diagnostic in patients with atypical clinical findings.

4. Pulmonary Function Tests: Pulmonary function tests are used to evaluate the effect of CF on the respiratory system.

5. Sputum culture: Infections are common in the airways of patients with CF. Sputum culture is used to detect bacteria and fungi in the airways. This test can also help choose the right antibiotic therapy.

6. Digestive Enzyme Tests: Digestive enzyme tests are used to evaluate the effect of CF on the digestive system. Levels of digestive enzymes such as lipase and trypsin can be measured in blood or stool samples. The pancreatic glands of patients with CF often produce lower than normal levels of digestive enzymes.

7. Blood Tests: Various blood tests, such as electrolyte levels, liver function tests, and blood glucose levels, can be used to evaluate the function of organ systems affected by CF.

8. Imaging Methods: Used to detect changes in the airways of CF.


The main goal of CF treatment is to slow the progression of the disease, control symptoms and improve the patient’s quality of life. Treatment requires a multidisciplinary approach and is planned individually based on the severity of the symptoms, age and general health of the patient. The following methods are commonly used during this approach:

1. Clearing the airways: It is important to remove the dense mucus that accumulates in the airways of CF patients. This can be done regularly using respiratory physiotherapy techniques such as postural drainage (positional drainage) and percussion (tapping). Inhalable medications can also be used to relieve congestion in the airways.

2. Treatment of infections: Since CF patients are prone to respiratory infections, it is important to treat infections. Antibiotics can be used to reduce the symptoms and complications of the disease.

3. Nutritional Support: Since CF affects the functions of the digestive system, nutritional problems can be common. Nutritional support may include methods such as boosting pancreatic enzymes, a high-calorie diet, and vitamin and mineral supplements. In addition, tube feeding methods called gastrostomy or jejunostomy may sometimes be used.

4. Organ-specific treatments: Since CF can affect organs other than the respiratory and digestive systems, organ-specific treatments may also be necessary. For example, medications or surgical procedures may be administered to support the functions of organs such as the liver or pancreas.

5. Genetic treatments: Some genetic treatments are also being investigated for CF patients. These treatments include approaches such as drug development and gene editing techniques to improve or correct the function of the CFTR protein.

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