Cystic fibrosis is a congenital, genetically transmitted disease that requires lifelong monitoring. The disease is characterized by secretions produced in the body being thicker and stickier than normal. These thick secretions can accumulate in various organs, primarily the lungs and digestive system, leading to functional disorders. With early diagnosis and regular treatment, the quality of life for individuals with cystic fibrosis can be significantly improved.
What is Cystic Fibrosis?
Cystic fibrosis is the inability of a gene (CFTR) that regulates the salt and water balance in cells to function adequately. This situation can cause the secretions produced in the body to be thicker than normal.
Secretions that should normally be fluid can accumulate, particularly in the lungs, pancreas, and digestive system channels, leading to blockages. Thick secretions accumulated in the lungs make it difficult to clear the respiratory pathways, while in the digestive system, they can prevent pancreatic enzymes from reaching the intestines, causing issues with nutrient absorption.
What Causes Cystic Fibrosis?
The CFTR (Cystic Fibrosis Transmembrane Regulator) gene is responsible for producing a protein that regulates salt (chloride) and water balance in the cell membrane. Mutations occurring in the CFTR gene may prevent this protein from performing its function fully.
As a result of the genetic disorder, the fluids secreted from the cells cannot be sufficiently fluid and have a denser, darker, and stickier consistency than normal. This can result in the accumulation of secretions in the respiratory and digestive systems, leading to the blockage of channels and eventual disruption of organ functions.
Cystic fibrosis is inherited in an autosomal recessive manner. For the disease to manifest, defective genes must be passed on from both the mother and the father. When the parents are only carriers, symptoms typically do not appear; however, if both parents are carriers, there is a risk of the child developing cystic fibrosis.
What Are the Symptoms of Cystic Fibrosis?
Symptoms of cystic fibrosis can vary depending on the age at which the disease begins and the affected organ systems. In some individuals, the disease presents symptoms during the newborn period, while in others, it may be diagnosed during childhood, adolescence, or adulthood. The severity of symptoms may vary from person to person.
Newborn Period Symptoms of Cystic Fibrosis
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Intestinal blockage (meconium ileus) in the first few days after birth
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Prolonged jaundice
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Insufficient weight gain
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Sweat that is saltier than normal
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Abnormal results in newborn screening tests
Childhood and Adulthood Symptoms of Cystic Fibrosis
Generally, symptoms during childhood and adulthood are related to the respiratory and digestive systems.
Respiratory System Symptoms
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Persistent and recurrent cough
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Thick and sticky sputum
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Frequent lung infections
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Shortness of breath and wheezing
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Fatigue during physical activity
Digestive System Symptoms
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Fatty, foul-smelling, and bulky stools
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Abdominal pain and bloating
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Inability to gain weight or weight loss
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Vitamin and mineral deficiencies
The symptoms of cystic fibrosis may progress over time and affect different organs. Therefore, early detection of symptoms, acceleration of the diagnostic process, and planning of appropriate treatment are crucial.
How is Cystic Fibrosis Diagnosed?
The diagnosis of cystic fibrosis can be made by evaluating clinical findings in conjunction with specific diagnostic tests. Today, thanks to advanced screening programs, the disease can be detected even before symptoms appear.
Newborn Screening Tests
The first step in diagnosing cystic fibrosis is newborn screening tests. These tests, conducted with a few drops of blood collected in the first days after birth, can identify at-risk infants early on.
Sweat Test
The sweat test is one of the most commonly used and reliable methods for diagnosing cystic fibrosis. In this test, the chlorine level in a sweat sample obtained from a specific area of the skin is measured.
Genetic Tests
Genetic tests enable the detection of mutations in the CFTR gene that lead to cystic fibrosis.
Clinical Assessment and Additional Tests
In the diagnostic process, the patient's:
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Respiratory system findings
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Digestive system issues
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Overall growth and development status
are evaluated in detail. If necessary, lung imaging methods, respiratory function tests, and additional examinations related to the digestive system may also be conducted.
How is Cystic Fibrosis Treated?
The treatment of cystic fibrosis is planned to control symptoms, preserve organ functions, and improve the quality of life. The treatment process is individually tailored based on the course of the disease and the affected organ systems and requires long-term follow-up.
Drug Treatments
Drug treatments for cystic fibrosis aim to reduce the thick secretions in the respiratory pathways and control infections.
Respiratory Physiotherapy
Respiratory physiotherapy is one of the cornerstones of cystic fibrosis treatment. By regularly applying physiotherapy methods,:
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The thick secretions accumulated in the lungs are cleared
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Respiratory pathways are kept open
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Infection risk is reduced
Nutritional and Digestive Support
Nutritional therapy is essential as the digestive system is frequently affected in cystic fibrosis.
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Support for nutrient absorption with pancreatic enzyme supplements
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Addressing vitamin and mineral deficiencies
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High-calorie and balanced diet programs
Monitoring and Supportive Approaches
Regular physician check-ups and a multidisciplinary approach should be adopted during the treatment process. The respiratory, nutritional, and general health status is assessed at specific intervals. Treatment plans are updated as required.
Frequently Asked Questions
Is cystic fibrosis contagious?
No, cystic fibrosis is not a contagious disease. It does not spread from person to person through respiratory or contact means as it is a genetically transmitted disease.
Is cystic fibrosis genetic?
Yes, cystic fibrosis is a genetic disease. For the disease to manifest, the defective gene must be transmitted from both the mother and the father.
Does cystic fibrosis affect life expectancy?
If left untreated, it may affect life expectancy. However, thanks to advanced treatment methods and regular monitoring available today, both life expectancy and quality of life have been significantly improved.
Can cystic fibrosis emerge at any age?
The disease may develop from birth, but symptoms may not emerge at the same period in each individual. In some, it is noticeable during the newborn period, while in others, it may be diagnosed in childhood or adulthood.
