What is cystic fibrosis? What are the symptoms of cystic fibrosis?

Cystic fibrosis is an inherited disease that causes serious damage to the lungs, digestive system, and other organs of the body. Cystic fibrosis; affects cells that produce mucus, sweat, and digestive juices. These fluids secreted in the body normally have a thin and slippery structure. However, a gene defect seen in people with cystic fibrosis causes secretions to be sticky and viscous. Instead of acting as a lubricant, secretions block the tubes, ducts, and passageways, especially in the lungs and pancreas, due to their thick consistency. Cystic fibrosis is a serious disease that requires daily care. Although it is a difficult disease to cope with, sick individuals can often go to school and work. With the advances in medicine, the treatment possibilities have increased compared to the previous years, and those who have the disease have a better quality of life today. Advances in screening and treatment of the disease make it possible for people with cystic fibrosis to live, on average, into their mid-30s, and some into their 40s and 50s.

Cystic fibrosis disease became curious after the introduction of the Dornase Alpha drug. It turned out that the Dornase Alpha drug, which is used in the treatment of cystic fibrosis, should also be used in the treatment of the coronavirus. Internet users started searching about Cystic fibrosis disease. So what is Cystic fibrosis? How are the symptoms of cystic fibrosis disease manifested? How is it treated? Here are the details …

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 normal. The disease can occur in individuals with both parents carrying the defective gene. Common chronic term problems associated with the disease include breathing difficulties and phlegmatic cough as a result of recurrent lung infections. There is no 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?

Symptoms of cystic fibrosis are not the same in every patient. Different symptoms are seen depending on the severity of the disease. Even in the same person, the symptoms can get worse or get better 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 the digestive system. However, in adults diagnosed with cystic fibrosis, certain complications, such as increased inflammatory attacks of the pancreas (pancreatitis), infertility, and recurrent lung infections, are more likely to occur.

Cystic Fibrosis Symptoms Are As Below

  • Salty leather
  • Persistent cough with excessive phlegm
  • Common lung infections
  • Growth retardation
  • Oily, foul-smelling stools
  • Extremely thick saliva
  • Infertility
  • Diabetes


The viscous and viscous pulmonary secretion (mucus) associated with cystic fibrosis blocks the airways that carry air into and out of the lungs. This is manifested by some symptoms such as:

  • Persistent sputum cough
  • Wheezing
  • Shortness of breath
  • Choking while exercising
  • Recurrent lung infections
  • Inflamed nasal passage or nasal congestion


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 eaten. The result is some symptoms such as:

  • Foul-smelling oily stools
  • Insufficient weight gain and growth retardation in babies
  • Intestinal obstruction, especially in newborns
  • Severe constipation
  • 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 must 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 a person suspects symptoms of cystic fibrosis in himself or his child, or if a family member is diagnosed with cystic fibrosis, it is useful to consult a health institution to test the disease. If the person has breathing difficulties, immediate medical assistance should be sought.

What is cystic fibrosis? What are the symptoms of cystic fibrosis?


In cystic fibrosis, the structure of a protein that regulates salt movement between inside and outside of the cell changes due to a mutation in a gene in the body. The result is the production of solid, sticky mucus in the respiratory, digestive, and reproductive systems and excess salt excretion in sweat. Many different defects can be found in the gene of interest. The type of gene mutation is related to the severity of the symptoms.

The disease is inherited autosomal recessively. This means that for the disease to occur, the person must have received a copy of the mutated gene from both parents. If the child receives 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?

Regular screening tests are performed on newborns with cystic fibrosis. Early diagnosis of the disease thanks to the screening test makes it possible to start treatment immediately. This provides better results from the treatment. In this screening test, the blood sample taken from the heel of the foot looks at the level of a chemical called IRT released by the pancreas. Neonatal IRT levels can be high due to early or difficult deliveries. Therefore, other tests are needed to confirm the diagnosis of cystic fibrosis.

In addition to checking IRT levels, genetic testing is also used to confirm the diagnosis. Doctors can also perform genetic tests to test for specialized defects in 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 ​​the skin. Then, for the test, sweat is collected and it is checked whether the sweat is normal. The test is done at a center specializing 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 for cystic fibrosis may be recommended in the presence of conditions such as pancreatitis called pancreatitis, nasal polyps, chronic sinusitis or lung infections, bronchiectasis, or male infertility, or recurrent nausea and vomiting.

Diagnostic Methods

Cystic fibrosis can be diagnosed as a result of tests applied to newborn babies. In the newborn period, the blood test called heel blood can give results in favor of cystic fibrosis in babies. A number of tests can also be performed to confirm the diagnosis and to detect the progression of the disease in the future:

  • Sweat Test
    The sweat test measures the ratio of a mineral called chlorine in the sweat glands.
  • Genetic Testing
    Gene mutations that cause cystic fibrosis are investigated.
  • Sputum Test
    It is an examination that can be done in case of lung infections.
  • Pulmonary Function Test
    It controls the patient’s oxygen and carbon dioxide intake.
  • Stool Test
    It shows the fat absorption in the stool.
What is cystic fibrosis? What are the symptoms of cystic fibrosis?

How is cystic fibrosis treatment done?

There is no cure for cystic fibrosis. Treatment is done to alleviate symptoms and improve quality of life. For this, close monitoring of the patient is important. Adverse 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:

  • To prevent and control infections in the lungs
  • Removing mucus from the lungs
  • Prevent and treat intestinal obstruction
  • To ensure adequate and balanced nutrition

In the treatment, various medications for lung infections, digestive enzyme intake with food for digestive problems, oxygen support for respiratory distress, chest physiotherapy to ensure sputum output, and the use of vibrating vests. Various surgical procedures are used for complications such as bowel problems, nasal polyps, and lung problems.

Treatment Methods

There is no known cure for cystic fibrosis, but new treatments help patients live a longer and more comfortable life. The treatment of people with cystic fibrosis varies depending on the course and severity of the disease.

  • Consultancy
    It helps to keep the course of the disease under control with exercise, education, nutritional counseling, and psychosocial counseling.
  • Pulmonary Rehabilitation
    It consists of exercises that can be done to prevent the formation of plugs in the lung and to ensure that the sputum formed does not accumulate and is easily removed.
  • Physiotherapy
    It helps the patient to relax with various devices and exercise techniques.
  • Oxygen Therapy
    This treatment is given to prevent the oxygen level in the blood from falling due to mucus build-up in the body and frequent lung infections.
  • Lung Transplant
    It is a method that can be used as the treatment of lung-related complications in cases where the disease progresses.
  • High-Calorie Diet
    Because of the problems in the digestive system, patients with cystic fibrosis cannot get enough energy from food. For this reason, diets consisting of higher energy foods can be used.
  • Feeding Tube
    It aims to ensure that patients who cannot continue their nutrition are fed by sending additional food to their stomach with the help of a tube. Apart from these, related treatments are applied in complications such as lung infections and pneumothorax, which are common due to the disease.

Physiotherapy management of cystic fibrosis

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