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Cystic Fibrosis: What is it, Causes, Symptoms and Treatment


Cystic Fibrosis: What is it, Causes, Symptoms and Treatment

Cystic fibrosis is an important genetic disease that affects various organ systems, especially the lungs and digestive system. During this disorder, the body produces a very thick and sticky mucus secretion. The secretions produced may accumulate in the lungs and pancreatic ducts over time and cause blockages. Individuals with this disorder, which can have a life-threatening course, have a shorter lifespan than healthy individuals. Until about 60-70 years ago, cystic fibrosis patients could only live until primary school age, but thanks to today’s developments, people with this disease can live until their 30s, 40s, or even later. It is very important to be aware of this disorder, which has an average prevalence of 1 in 3000 in society, as 75% of newly diagnosed individuals are under the age of 2. Frequently wondered “What causes cystic fibrosis?” and “How is cystic fibrosis diagnosed?” Before answering questions like “What is cystic fibrosis?” It is necessary to answer the question.

What is Cystic Fibrosis?

Cystic fibrosis is a serious genetic disease that causes severe damage to the respiratory system and digestive tract. This damage is caused by the accumulation of thick and sticky mucus in various organs. Lungs, pancreas, liver and intestines are the main affected organs.

In this disorder, cells that produce sweat, mucus and digestive enzymes are affected. These normally secreted fluids are light and fluid. Thanks to these secretions, various organs and tissues are kept moist, preventing damage from excessive dryness or infection. In people with cystic fibrosis, secretions are sticky and dense due to faulty gene sequences. Instead of moisturizing the tissues, such secretions cause blockages in channels, tubes and various transitional structures. Over time, blockages can lead to conditions such as infections, respiratory failure, or lack of various nutrients, which will negatively affect general well-being. Therefore, treatment for cystic fibrosis should be taken as soon as the diagnosis is made. Early diagnosis and treatment are basic approaches that can extend the quality and duration of life of these individuals.

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What Causes Cystic Fibrosis?

In cystic fibrosis disease, there is a defect or mutation in the “Transmembrane conductance regulator (CFTR) gene”. Due to this change in the gene, a change occurs in salt secretion into and out of the cells. With the change in salt excretion, a sticky and dense secretion occurs throughout the digestive system, respiratory tract and reproductive tracts. At the same time, there is an increase in the amount of salt excreted through the individual’s sweat.

Mutations in the CFTR gene can occur in many ways. The type of mutation also determines the severity of the disease. This gene, located on chromosome 7, mainly plays a role in the synthesis of proteins related to chloride channels. Approximately 2000 different mutations that may occur in this gene region on chromosome 7 and result in cystic fibrosis have been identified. These mutations can be basically divided into 5 categories. Faulty protein synthesis, defects in the protein processing process, problems with gene regulation, problems with the functions of chloride channels and channel regulation problems constitute the 5 basic problems that may occur due to mutations.

For any child to have cystic fibrosis, he or she must inherit the faulty gene from both parents. If a child inherits only a single mutation from his or her parents, he or she will be a carrier for cystic fibrosis. Since cystic fibrosis is a genetic disorder, having a positive family history and consanguineous marriages are very important risk factors.

What are the symptoms of cystic fibrosis?

Symptoms of cystic fibrosis may vary from patient to patient and depending on the severity of the disease. The age of the patient is another factor that is very effective in the diversity of symptoms. While the onset of symptoms occurs in infancy in some patients, no symptoms may appear until adolescence in some patients. In individuals with the disease, symptoms may get better or worse over time.

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The main symptom of cystic fibrosis is that the patient’s skin has a very intense salt taste. Some parents can easily feel this strong salt taste when they kiss their children. Other symptoms that may occur during the course of the disease vary depending on which organ system is affected by the disease.

If the dense and sticky mucus secretion blocks the airways in the lungs, it may cause symptoms such as wheezing, phlegmy cough, shortness of breath during exercise, frequent respiratory infections, and congestion in the nose or sinuses. Abnormally dense mucus secretion can negatively affect the digestive system in addition to the lungs. If the channels involved in the flow of enzymes from the pancreas to the small intestines are blocked, the intestines cannot absorb nutrients from the consumed food. If this situation occurs, various symptoms such as oily and foul-smelling stools, constipation, nausea, abdominal bloating, loss of appetite, inability to gain weight and growth retardation may occur. “What are the symptoms of cystic fibrosis?” The question can be answered this way.

How is Cystic Fibrosis Diagnosed?

The diagnostic approach to cystic fibrosis begins with a sweat test, which examines the chloride level in sweat. Despite the presence of complaints in some individuals, a negative result of the sweat test does not exclude the disease and the situation is continued to be examined with repeated sweat tests. If the sweat test results are abnormal, the presence of a genetic defect can be revealed by examining the individual’s DNA. Sweat test is the most frequently used test for the diagnosis of cystic fibrosis. In this test, sweat is collected with the help of a pad or napkin to examine the level of electrolytes in sweat. For example, if the salt level is higher than normal, the diagnosis of cystic fibrosis is approached. Apart from this examination, other methods that can be used to diagnose cystic fibrosis can be summarized as follows:

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Immunoreactive Trypsin Test (IRT)

Since Cystic Fibrosis disease is common in our country, IRT test was added to newborn screening in order to diagnose the disease early and start treatment early. Patients with high IRT values ​​are subjected to a sweat test for second-stage diagnostic confirmation.

With the IRT test, abnormal protein levels in the blood of newborn babies are detected. Although the test result being higher than normal is considered a finding in favor of cystic fibrosis, the IRT test result must be confirmed with other tests.

For patients suspected of having cystic fibrosis, further examinations are planned depending on the organ involved.

How is Cystic Fibrosis Treated?

The treatment approach to cystic fibrosis, which can affect many organ systems, is planned to aim to increase the patient’s quality and duration of life. Therefore, it is very important to control the complaints that may occur due to the disease. In line with this goal, protecting the respiratory tract from infection and preventing possible obstructions are the basic interventions that can be taken to protect lung functions. In addition to protecting the respiratory system, the patient’s digestive system is also supported with pancreatic enzyme and multivitamin supplements.

Antibiotics, mucus-thinning drugs, nonsteroidal anti-inflammatory drugs, bronchodilators (airway expanders) and CFTR modulator treatments are among the drugs that can be used in the treatment of this disorder. In addition to drug treatment, some people may also resort to surgical treatment methods such as intestinal operations, tube feeding and lung transplantation.


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