Cystic fibrosis, also known as cystic fibrosis, is a genetic disease affecting the respiratory and digestive systems. It is characterized by thick mucus production that clogs the airways and pancreatic ducts.
Causes of cystic fibrosis disease
Cystic fibrosis is one of the most common genetic diseases in the white race. The disease is caused by a combination of genetic disorders passed down from both parents. The gene that causes cystic fibrosis is recessive, so it requires both parents to be carriers of the gene for the disease to manifest.
This gene is usually responsible for maintaining a more fluid consistency of secretions in the body. When the gene is not functioning properly, the secretions in some organs become thick.
Effect on the lungs
In the lungs, thick mucus blocks the bronchioles, impeding the normal movement of air through them and creating a favorable environment for the growth of pathogens. In addition, thick mucus is more difficult to expel, so the natural cleansing of the respiratory tract (including coughing) is difficult. Because of this, people with cystic fibrosis often have chronic respiratory infections and are at higher risk of bronchitis and pneumonia.
Constant inflammatory processes lead to destruction of lung tissue and deterioration of respiratory function.
Effect on the organs of the gastrointestinal tract
The work of the digestive system is also affected by cystic fibrosis. The ducts of the pancreas are blocked by thick secretion, preventing the normal release of digestive enzymes into the intestines. This leads to pancreatic insufficiency, in which there are not enough enzymes to effectively break down fats, proteins and carbohydrates. As a result, malabsorption develops – a violation of the absorption of nutrients. Their deficiency worsens the work of all systems and organs.
In newborns, viscous mucus can cause intestinal obstruction, and in adults – chronic constipation, also up to bowel obstruction.
Against the background of cystic fibrosis can develop blockage of bile ducts. This contributes to the development of chronic inflammation in the liver and bile ducts and, as a consequence, cirrhosis and fibrosis of the liver.
Effect on the reproductive system
In men, the viscous mucus blocks the ejaculatory ducts, leading to infertility in most cases. In women, the disease can cause increased mucus viscosity in the cervix and reduced fertility.
Symptoms of cystic fibrosis
Symptoms of the respiratory form of cystic fibrosis:
- Chronic cough – often exhausting, with thick sputum;
- Frequent respiratory tract infections – bacterial bronchitis, pneumonia caused by bacillus, staphylococcus aureus;
- Difficult breathing – shortness of breath, wheezing;
- Polyps (benign neoplasms) in the nose, chronic sinusitis.
Symptoms of the gastrointestinal form of cystic fibrosis:
- Underweight and stunted growth;
- Chronic diarrhea – greasy, smelly stools;
- Frequent abdominal bloating, increased gas;
- Abdominal pain;
- Frequent episodes of constipation, sometimes alternating with diarrhea;
- Intense contraction-like abdominal pain;
- Increased fatigue due to the fact that the body is not getting enough nutrients;
- Deterioration of vision, weak bones, bleeding gums on the background of nutrient deficiency.
Treatment of cystic fibrosis
It is impossible to cure cystic fibrosis, so therapy is aimed at slowing down the damage to internal organs, supporting their work, and reducing the risk of infectious inflammation in them. Early initiation of treatment for cystic fibrosis can significantly improve the prognosis of the disease and the patient’s quality of life.
Drug treatment
To liquefy mucus in the respiratory tract, mucolytics and bronchodilators are used, which facilitate the discharge of mucus and relieve spasms of the respiratory tract. Antibiotics are prescribed to prevent infections, and in case of exacerbation – intravenously. Chronic inflammation is treated with nonsteroidal anti-inflammatory drugs and, in severe cases, corticosteroids. Patients with pancreatic dysfunction take enzymes to improve digestion. Dietary therapy and vitamin therapy are important to compensate for poor absorption of nutrients.
Complementary therapies
Complementary therapies can help to clear thick mucus from the airways, improve lung ventilation and reduce the risk of infectious complications. They should be used not only during an exacerbation, but also during remission – it is good if they become part of the lifestyle, like exercise or hygiene procedures.
Breathing exercises for cystic fibrosis:
- “slow breathing” – deep inhalation through the nose and slow smooth exhalation through the mouth. It helps to improve lung ventilation and relax the respiratory muscles;
- “blowing on the candle” – slowly and carefully blowing out an imaginary candle, exhaling through the mouth. Helps to develop the strength of respiratory muscles;
- “balloon” – inflate a balloon, making deep inhalations and exhalations. Develops lung function, strengthens respiratory muscles.
To support the respiratory system, various types of massage are recommended.
The most effective massage techniques are:
- postural drainage – a technique that improves the drainage of mucus from the lungs by using a special body position (the chest is lower than the hips);
- percussion massage – light tapping on the chest.
- Inhalations can improve the effect of treatment.
Nutrition and enzyme therapy
Patients with cystic fibrosis often have impaired absorption of fats and other nutrients due to impaired pancreatic function. Therefore, a diet high in calories, vitamins, and nutrients is recommended, as well as continuous intake of enzyme preparations. Vitamin supplements are also indicated, especially fat-soluble vitamins A, D, E and K.
Complications of cystic fibrosis
Progression of the disease leads to organ damage and chronic deficiencies.
- Chronic lung failure
Pulmonary fibrosis impairs breathing, requiring oxygen therapy or lung transplantation.
- Diabetes mellitus
Half of patients suffer from diabetes due to damage to the pancreas, requiring insulin therapy.
- Liver disease
Bile duct blockage leads to cirrhosis and portal hypertension, which can cause chronic liver failure.
- Infertility
Men develop obstructive azoospermia and in women the ability to conceive is reduced due to thickening of cervical mucus.
Conclusion
Cystic fibrosis is a severe genetic disorder that impacts multiple organs, especially the lungs, digestive system, and reproductive organs. While there is no cure, early diagnosis and comprehensive treatment, including drug therapy, breathing exercises, and enzyme supplementation, can significantly improve the patient’s quality of life and slow disease progression. Ongoing care focused on managing respiratory infections, digestive issues, and nutritional deficiencies is crucial for patients to lead a healthier life and minimize complications. Despite the challenges, advancements in treatment and therapies continue to offer hope for those living with cystic fibrosis.
