Symptoms of Cystic Fibrosis
Ece Begüm Aksoy
As we mentioned in our previous article, cystic fibrosis is caused by a dysfunction in the CTFR protein as a result of mutations in the cystic fibrosis gene located in the q22-31 region of the 7th chromosome. So, what kind of symptoms does this dysfunction present in the patient and how can it be detected?
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First of all, it should be noted that cystic fibrosis symptoms can vary from person to person. Since 2015, cystic fibrosis has been included in newborn screening tests in our country. For this reason, it can usually be diagnosed in newborns. However, if the symptoms progress slightly, it can be diagnosed at later ages. Sometimes a condition called "meconium ileus" may be encountered in newborn patients. This can simply be defined as the inability to excrete the first stool as a result of concentrated body secretions, and the obstruction of the intestines. Surgery may be required.
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Again, another of the first findings is pancreatic insufficiency. This is because the dense mucosa prevents the transmission of pancreatic enzymes from the pancreas to the small intestine. The absence of enzymes causes low absorption of protein and fat, thus growth disorders, insufficient weight gain, and fatty stools. At the same time, enzymes that cannot be transmitted damage the pancreatic tissue, causing chronic pancreatitis. It also causes diabetes due to endocrine dysfunction in the pancreas.
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Generally, problems with the lungs begin to be observed in late childhood. The concentrated mucus begins to restrict the movements of the cilia, which are used to expel microorganisms in the lung, which means not to expel microorganisms and to provide a suitable environment for their colonization. Cough and fever are observed as a result of lung infections. If these attacks are repeated frequently, respiratory failure is seen.
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Infertility is observed in men as a result of blockage of the vas deferential channel. In some patients, nasal polyps are encountered as a result of the condition where the fingers take the shape of a spoon called "clubbing" and tissue growth in the nose. In addition, unlike the lungs and pancreas, CFTR causes the inability of chlorine to enter in the sweat ducts, and thus a salty sweat formation as a result of chlorine accumulation. Parents say that when they kiss their children, they get a salty taste.
So how is it diagnosed?
In newborns, an IRT scan is performed on the blood taken from the heel. Here, an immune-reactive pancreatic enzyme called trypsinogen is detected in the blood because when the pancreas is damaged, this substance enters the blood. In addition, a sweat test can be done. If the chlorine value in sweat is 60 mmol / L and above, the test is considered positive. Sputum test can be performed if lung infection is suspected. With the pulmonary function test, the oxygen carbon dioxide intake of the patient can be measured. In addition, genetic tests are performed to identify and investigate the mutation.
Today, more than half of the CF patients are over the age of 18 with cystic fibrosis treatment methods. They can continue their lives in a healthy way until their thirties, forties and even later. Patients are able to go to school, work and establish their own families like everyone else, thanks to the constantly improving treatments. We will talk about these treatment methods in detail in another article.