Cystic Fibrosis: What is it?

Cystic fibrosis is a genetic disorder that occurs when the genetic abnormalities inherited from both parents combine in a child. It mostly affects the lungs, upper and lower respiratory tract, liver, intestines, pancreas, sweat glands, and reproductive system. At Liv Hospital Pediatric Pulmonology Clinic, cystic fibrosis is evaluated by expert teams in the field using the latest medical developments.

What Causes Cystic Fibrosis?

Cystic fibrosis is one of the most common genetic diseases in the Caucasian population. It occurs when the genetic abnormalities inherited from both parents combine in a child. Since the gene responsible for cystic fibrosis is recessive (autosomal recessive), both parents' genetic carriership affects the condition in the child.

The gene responsible for the disease normally regulates the moisture content of secretions in the body. When this gene fails to function properly, secretions in certain organs become thickened. Thickened secretions block the ducts, causing secretions to thicken, leading to the onset of symptoms and signs in affected organs.

What are the Symptoms of Cystic Fibrosis?

Cystic fibrosis can affect multiple systems, leading to various associated symptoms. The most commonly affected organ is the lungs, followed by the upper and lower respiratory tracts, liver, intestines, pancreas, sweat glands, and reproductive system.

The most common symptoms of cystic fibrosis include:

• Failure to pass stool (meconium) within the first 2 days of life in newborns
• Prolonged jaundice
• Persistent or recurrent cough, wheezing, respiratory infections resistant to treatment
• Recurrent bronchitis
• Severe and difficult-to-treat asthma
• Chronic coughing up of phlegm and bloody sputum
• Respiratory failure
• Chronic or recurrent sinusitis
• Thickening of the bronchi, bronchiectasis (widening of the bronchi), or atelectasis (lung collapse) on chest X-rays or tomography
• Excessive sweating with salty taste, salty taste when kissed
• Fluid loss through sweating
• Growth failure, failure to thrive, poor weight gain, or weight stagnation
• Vitamin deficiencies
• Oily, foul-smelling recurrent diarrhea
• Chronic constipation and intestinal blockages
• Unexplained elevation of liver enzymes, liver steatosis and enlargement, liver failure, and signs of bile stasis
• Diabetes and chronic pancreatitis
• Unexplained delay in puberty and infertility.

How is Cystic Fibrosis Diagnosed?

Cystic fibrosis diagnosis involves sweat tests and genetic tests. Patients with symptoms and signs consistent with the disease should be investigated for cystic fibrosis. Additionally, siblings of individuals with cystic fibrosis and those who test positive on cystic fibrosis screening tests should also undergo cystic fibrosis investigations.

In sweat testing, a small device shaped like a watch is attached to induce sweating, and the sweat collected is transferred to another device to measure the level of chloride in the sweat. This procedure is a painless test that does not cause additional problems and typically takes about 30-45 minutes. Subsequently, the results are interpreted and provided to the patient. A chloride level in sweat above 60 mEq/l indicates a positive sweat test. Results between 30-59 are considered borderline, while 29 and below are considered normal. Genetic testing is also frequently used alongside sweat testing in diagnosis and serves as complementary tests to each other.

How is Cystic Fibrosis Treated?

Treatment for cystic fibrosis varies depending on the affected organs. Chest physiotherapy aimed at clearing mucus and secretions from the respiratory system, medication to target proliferating microorganisms, and inhalation therapies to dissolve mucus and thin out thick secretions may be used. Treatments aimed at promoting patients' growth and weight gain, replacing deficient enzymes and vitamins, providing high-calorie formula supplements, and replacing missing salts are also applied.

In recent years, the emergence of "modulator" therapies targeting the mechanism of the disease has yielded promising results, leading to significant improvement in patients' clinical symptoms and respiratory functions.