Cystic fibrosis is a genetically inherited disease, and it is a chronic condition that primarily affects the lungs and the digestive system. In this disease, the body produces mucus that is thicker and stickier than normal.

Cystic fibrosis can affect not only the respiratory system but also organs such as the pancreas, liver, and intestines. This can lead to problems such as growth retardation, vitamin deficiencies, and inability to gain weight. Early diagnosis and regular treatment are crucial to improving the patient’s quality of life.

Cystic fibrosis (CF) is a hereditary genetic disorder that negatively impacts especially the lungs and digestive system. Due to certain genetic mutations, the channels responsible for regulating salt and water balance in the body malfunction. As a result, the mucus and digestive fluids produced by the glands become thicker and stickier.

This mucus accumulates especially in the lungs, blocking the airways and increasing the risk of infection. It also impairs digestive system functions by preventing the absorption of nutrients. Therefore, symptoms of CF usually manifest as complaints affecting respiration and digestion.

The answer to the question “How is cystic fibrosis treated?” may vary depending on the progression of the disease and the severity of symptoms. However, it is important to recognize the symptoms first. This disease typically begins to show signs in childhood and follows a progressive course.

The most common symptoms are:

• Chronic, mucus-producing cough
• Recurring respiratory infections like bronchitis and pneumonia
• Shortness of breath and wheezing
• Growth retardation, inability to gain weight
• Greasy, foul-smelling stool
• Salty skin and excessive sweating

These symptoms provide important clues for diagnosis. To remove the mucus from the airways, regular and disciplined respiratory physiotherapy should be performed. These therapies help loosen the mucus and facilitate its removal.

The treatment process is supported by medications, antibiotics, vitamin supplements, special nutrition plans, and, if necessary, enzyme supplements. With a multidisciplinary approach, the patient’s quality of life can be improved, and complications can be prevented.

Treatment of cystic fibrosis is not limited to medical interventions. It also includes educational support aimed at raising awareness for the patient and their parents. In this way, this lifelong struggle can be made more sustainable.

The cystic fibrosis sweat test is one of the most common and reliable methods used to diagnose this genetic disease. Cystic fibrosis results from a genetic mutation that disrupts the salt and water balance in the body. This mutation causes the sweat glands to secrete excessive amounts of salt (sodium and chloride).

The purpose of the sweat test is to measure the salt concentration in a sample taken from the skin surface to detect this disorder. Cystic fibrosis, which appears especially in infancy and childhood, can lead to progressive lung damage if not diagnosed early. Therefore, it is very important to apply quick and effective diagnostic methods.

The test procedure is quite simple. First, a sweat-inducing substance called pilocarpine is applied to the child’s arm or leg using a low-dose electric current. Then, the sweat is collected with a sterile disk and analyzed in the laboratory.

Results are usually available within a few hours. In healthy individuals, the salt concentration in sweat is low; however, in individuals with cystic fibrosis, this value is significantly high. A positive test result may not necessarily indicate a definitive diagnosis; in this case, genetic tests and additional examinations may be required.

Another important factor in diagnosing the disease is the presence of symptoms. Persistent cough and phlegm are usually the first signs that draw attention. These symptoms are often accompanied by lung infections. The accumulation of mucus in the respiratory tract promotes bacterial growth and leads to recurrent infections. Over time, these infections can cause permanent damage to the lung tissue.

The sweat test is especially used in newborn screening or in babies with a family history of the disease. Performing it at an early stage helps in starting treatment quickly and improving the quality of life.

Antibiotic treatments and special nutrition programs are supportive treatments initiated after diagnosis. Therefore, the sweat test is not only for diagnosing the disease but also the first and most critical step in managing it.

For screening and diagnosis of cystic fibrosis, you can contact Denge Tıp.