Cystic fibrosis – a genetic disease requiring comprehensive care

Cystic fibrosis, also known as diffuse pancreatic fibrosis, is a rare genetic disease that affects many aspects of the lives of patients and their families. In this article you will learn what cystic fibrosis is, its causes, symptoms, methods of diagnosis and treatment, and how long you can live with this disease. You will also learn about the inheritance of this disease and receive tips on long-term care for patients with cystic fibrosis.

What is cystic fibrosis?

Cystic fibrosis is a genetic disease that affects the respiratory, digestive and urinary systems. It is a disease that occurs from birth and is caused by a mutation in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. This mutation leads to the production of thick, sticky secretion that clogs the respiratory tract and pancreas, which in turn causes numerous health complications.

Cystic fibrosis – causes

The main cause of cystic fibrosis is an inherited mutation in the CFTR gene. A person who has two mutated alleles of this gene is a carrier of the disease. If both parents are carriers, there is a 25% chance that their child will inherit two copies of the mutated gene and suffer from cystic fibrosis.

Cystic fibrosis – symptoms

Symptoms of cystic fibrosis can be diverse and vary depending on the stage of the disease. Typical symptoms include: chronic cough, recurrent respiratory infections, breathing difficulties, impaired growth and development, digestive disorders, urinary problems and excessive salt in sweat.

Cystic fibrosis – diagnosis

Diagnosis of cystic fibrosis involves performing a genetic test that will confirm the presence of mutations in the CFTR gene. Additionally, doctors use imaging tests, lung function tests and other diagnostic methods to assess the patient’s health and the severity of the disease.

Cystic fibrosis – treatment

Treatment of cystic fibrosis is complicated and requires a multidisciplinary approach. Patients with cystic fibrosis must perform special treatments every day, such as inhalations, respiratory physiotherapy, taking anti-inflammatory drugs and pancreatic enzymes. In some cases, a lung or pancreas transplant may be necessary.

Cystic fibrosis – life expectancy

Advances in the treatment of cystic fibrosis have significantly improved the quality of life and survival of patients. Modern therapies allow many people with cystic fibrosis to live to a mature age and lead an active lifestyle. However, life expectancy in cystic fibrosis still varies and depends on many factors, including the stage of the disease and access to effective treatment.

Your suggestions

If you suspect that you or your child has cystic fibrosis or have any questions about it, do not hesitate to consult your doctor. Regular check-ups and appropriate treatment can significantly improve the quality of life of cystic fibrosis patients.

Recommended articles

If you want to learn more about cystic fibrosis, we recommend reading the following articles:

• Cystic fibrosis in children – how to help?
• New therapies in the treatment of cystic fibrosis
• Support for cystic fibrosis patients and their families

Cystic fibrosis is a serious disease that affects the lives of many people. It is worth knowing its causes, symptoms and treatment to provide patients with the best possible care and support.