Cystic fibrosis is an inherited disease that causes serious damage to different organs of the body, especially the lungs and digestive system. It usually affects cells that produce mucus, sweat and digestive juices. The structure of these fluids secreted in the body is normally thin and slippery. However, the disease changes the structure of these secretions, causing them to become sticky and thick in texture. The secretions block the lungs and their passageways, causing damage and lung infection.
This rare disease can occur in people who have both parents with the defective gene. The risk of life-threatening and death is high. However, life expectancy is increasing with the treatment possibilities of today's technology. In addition to the fact that there is no definitive treatment for the disease, efforts are made to improve the quality of life in these cases.
What are the Symptoms of Cystic Fibrosis?
Symptoms of cystic fibrosis vary from person to person and depending on the condition of the disease. Symptoms may improve or worsen over time. Some people do not experience any symptoms until adulthood.
The level of salt in the body of patients is higher than normal. Family members can even taste the salt when they kiss their children.
Different signs and symptoms affect the respiratory and digestive systems. The likelihood of different disorders such as pancreatitis and lung infection and infertility is high.
Digestive System Symptoms
This disease affects the digestive system and causes a number of symptoms and signs. The mucus, which increases in density, can also block the tubes between the pancreas and the small intestine. As a result, food and nutrients cannot be absorbed and digested. Symptoms that may be caused by such conditions are as follows:
- Oily and foul smelling stools
- Failure of babies to gain weight and developmental delay
- Prolonged constipation
- Stomach problems and nausea
- Swelling of the abdomen
- Loss of appetite
In people who are constipated for a long time, the rectum may prolapse out of the anus if there is frequent tension around the anus. This condition is called rectal prolapse and should definitely be suspected when seen in children. You should consult a specialist doctor and get support. Rectal prolapse may require surgical intervention in some cases. This is not common nowadays.
If a person suspects symptoms in themselves or their child, or if a family member has been diagnosed with the disease, it is advisable to contact a health care provider for testing. In addition, urgent medical attention should be sought in case of respiratory distress and difficulty breathing.
What Causes Cystic Fibrosis?
The disease is an inherited disease that occurs as a result of a mutation of a gene in the body. With the change in the structure of the protein that regulates salt movement, intense, sticky mucus production and excessive salt excretion in sweat occur in the respiratory, digestive and reproductive systems. Many deficiencies and defects can be found in the gene. The type of gene mutation is linked to the severity of symptoms.
Carrying a copy of the mutated gene from both parents causes the disease. Having a single copy of the gene does not cause the disease to develop. In addition, people who are carriers of the disease can pass on their genes to their offspring.
How is cystic fibrosis diagnosed?
Cystic fibrosis can be diagnosed as a result of tests and examinations performed on newborn babies. A blood test called heel blood is decisive in the newborn period of babies. The tests performed in terms of diagnosis, finalization and progression of the disease are as follows:
Sweat Test
The sweat test measures the level of a mineral called chlorine in the sweat glands. The results of the test performed by trained technicians are analyzed in laboratory settings. It is an important test for diagnosis. It can be performed on individuals of all ages.
Genetic Test
Genetic testing aims to detect and identify mutated genes. The disease is diagnosed and diagnosed with this test. It is important to perform this test in cases such as symptoms of the disease, salty sweat, breathing difficulties.
Sputum Test
It is one of the examinations and tests performed in cases of infection in the lungs. Due to the dense and thick consistency of the mucus, the lung channels can become blocked. Obstruction in this area can cause sputum and microbes that settle in the lungs.
Pulmonary Function Test
A pulmonary function test, also known as a breathing test, is performed to check the person's oxygen and carbon dioxide intake and determine its level.
Stool Test
The stool test, which is performed when the disease causes lubrication and odor in the stool, measures the absorption of fat in the stool and provides information about the condition of the disease.
How is cystic fibrosis treated?
There is no definitive treatment method that cures the disease one hundred percent. The aim of the treatment process is to reduce the pain and complaints experienced by the person. The quality of life of the person is tried to be improved by alleviating the symptoms.
In this process, the patient should be closely monitored. With early medical intervention, instant negativities that may occur are tried to be prevented. Cystic fibrosis treatment is a complicated process. For this reason, it is beneficial to intervene by doctors who are trained and specialized in the disease. Among the goals of treatment are the following:
- Preventing and controlling lung infections
- Removing mucus that takes up space in the lungs
- Preventing and treating intestinal obstructions
- Ensuring adequate and balanced nutrition of the person
A number of treatments such as the use of medications prescribed by a doctor for the treatment of lung infections, digestive enzyme intake with meals for digestive diseases, oxygen and air support for those with breathing difficulties, chest physiotherapy and vibrating vests for the removal of phlegm can be applied.
As a result of complications such as intestinal problems, nasal polyps and lung diseases, surgical methods can be used if deemed necessary by the specialist doctor.