Cystic Fibrosis, which is seen in one of every 3-4 thousand babies in Turkey, can cause death. Cystic Fibrosis is one of the most dangerous diseases for children if it cannot be controlled. After the death of Melih Kalkan, Cystic Fibrosis became the agenda on the internet. Citizens began to investigate the details of Cystic Fibrosis disease. So, what is Cystic Fibrosis, what are the symptoms?
Twitch publisher and content producer Melih 'JRLOST' Kalkan, known for his positivity and talent on social media, passed away in the hospital where he was treated for a while. Kalkan's death shocked his fans.
Young publisher Melih Kalkan, known for his publications with 'Unlost', died after succumbing to cystic fibrosis disease. While the news is on the agenda on social media; His loved ones suffered greatly.
YouTubeMelih Kalkan, who produces content in . and broadcasts on Twitch, was struggling with 'cystic fibrosis' disease.
What is cystic fibrosis?
Cystic Fibrosis is a genetic disease that mostly affects the lungs, but also the intestines, pancreas, liver and kidneys. Due to the disease, the cells that produce mucus, sweat, and digestive juices cannot function properly. Cystic fibrosis can be life-threatening and patients have a shorter lifespan than usual. The disease can be seen in individuals whose both parents carry the defective gene. Common chronic term problems associated with the disease include difficulty breathing and coughing up phlegm as a result of recurrent lung infections. There is no definite cure for cystic fibrosis. However, good nutrition, mucus thinning, and taking steps to increase sputum excretion can help improve quality of life.
What are the symptoms of cystic fibrosis?
Cystic fibrosis symptoms are not the same in every patient. Different symptoms are seen depending on the severity of the disease. Even in the same person, symptoms may worsen or improve over time. Some people do not experience any symptoms until adolescence or adulthood. Individuals with cystic fibrosis have higher than normal levels of salt in their sweat. Parents can taste salt when they kiss their children. Most of the other signs and symptoms are related to the respiratory system and digestive system. However, adults diagnosed with cystic fibrosis are more likely to experience certain complications, such as increased attacks of the inflammatory pancreas (pancreatitis), infertility, and recurrent lung infections.
Respiratory System Symptoms
The thick, sticky lung secretion (mucus) associated with cystic fibrosis clogs the airways that carry air in and out of the lungs. This is manifested by some symptoms such as:
- Persistent phlegm cough
- wheezing
- Shortness of breath
- Clogging while exercising
- recurrent lung infections
- Inflamed nasal passage or nasal congestion
Digestive System Symptoms
Thick mucus can also block the tubes that carry digestive enzymes from the pancreas to the small intestine. Without these digestive enzymes, the intestines cannot fully digest and absorb the nutrients in the food they eat. As a result, some symptoms appear, such as:
- foul-smelling oily stool
- Insufficient weight gain and growth retardation in infants
- Intestinal obstruction, especially in newborns
- severe constipation
- Abdominal bloating
- Nausea
- Loss of appetite
Due to constant constipation, the last part of the large intestine, called the rectum, may hang out of the anus as a result of frequent tension around the anus during defecation. If this condition, called rectal prolapse, occurs in children, cystic fibrosis should be suspected. In this case, parents should consult a doctor knowledgeable about cystic fibrosis. Rectal prolapse in children may sometimes require surgery. Rectal prolapse is less common in children with cystic fibrosis than in the past. This depends on the early diagnosis and treatment of cystic fibrosis as a result of early testing.
If the person suspects the symptoms of cystic fibrosis in himself or in his child, or if a family member has been diagnosed with cystic fibrosis, it is useful to consult a health institution for testing the disease. If the person has difficulty breathing, seek immediate medical attention.
What are the Causes of Cystic Fibrosis?
In cystic fibrosis, the structure of a protein that regulates salt movement between the inside and outside of the cell changes due to a mutation in a gene in the body. The result is a production of solid, sticky mucus in the respiratory, digestive and reproductive systems and excretion of excess salt in sweat. Many different defects can be found within the gene of interest. The type of gene mutation is related to the severity of the symptoms.
The disease is inherited as autosomal recessive. This means that for the disease to occur, a person must have inherited one copy of the mutated gene from both parents. If the child inherits only one copy of the defective gene, cystic fibrosis will not develop. However, these children become carriers of the disease and can pass the gene on to their own children.
How is cystic fibrosis diagnosed?
Since 2015, screening tests for cystic fibrosis in newborns have been performed regularly in Turkey. Thanks to the screening test, early diagnosis of the disease makes it possible to start treatment immediately. This ensures better results from the treatment. In this screening test, the level of a chemical called IRT, released by the pancreas, is checked in a blood sample taken from the heel of the foot. Neonatal IRT levels may be high due to premature or difficult deliveries. Therefore, other tests are needed to confirm the diagnosis of cystic fibrosis.
Genetic testing is used as well as checking IRT levels to confirm the diagnosis. Doctors may also perform genetic testing to test for specialized defects on the gene responsible for cystic fibrosis.
To assess whether a baby has cystic fibrosis, doctors may also do a sweat test when the baby is at least 2 weeks old. During the sweat test, a sweat-producing chemical is applied to a small area of skin. Then, sweat is collected for the test and it is checked whether the sweat is normal. The test is done at a center that specializes in cystic fibrosis.
Cystic fibrosis diagnostic tests for older children and adults may be recommended for children and adults who are not included in screening after birth. Genetic testing and sweat testing may be recommended for cystic fibrosis in the presence of pancreatitis called pancreatitis, nasal polyps, chronic sinusitis or lung infections, bronchiectasis or male infertility, or in the presence of recurrent nausea and vomiting.
How is cystic fibrosis treated?
There is no cure for cystic fibrosis that makes a full recovery. Treatment is done to relieve symptoms and improve quality of life. For this reason, it is important to monitor the patient closely. Negative situations are tried to be prevented with early and intensive intervention. Treatment of cystic fibrosis is complex; therefore, it would be beneficial to receive treatment in a center specialized in the disease. The goals of treatment include:
- Preventing and controlling infections in the lungs
- removing mucus from the lungs
- prevent and treat intestinal obstruction
- Providing adequate and balanced nutrition
Treatment includes various medications for lung infections, digestive enzyme intake with meals for digestive problems, oxygen support for respiratory distress, chest physiotherapy to ensure sputum output, and the use of a vibrating vest. Various surgical procedures are used for complications such as intestinal problems, nasal polyps and lung problems.
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