What is cystic fibrosis?

Most importantly:

What is cystic fibrosis?

The genetic factors behind the condition

What are the most common symptoms of cystic fibrosis?

How is the condition managed?

Cystic fibrosis (CF) is a multisystem genetic autosomal (a specific gene that is not on a sex chromosome) recessive disorder whose main feature includes the dysfunction of the exocrine glands. Exocrine glands produce sweat, tears, milk, saliva, and digestive juices. This disease most commonly affects the lungs and digestive system. Cystic fibrosis is the result of a genetic mutation that leads to the production of thick and sticky mucus that can obstruct the airways and pancreas.

In this article, we’ll look at key aspects of the disease, symptoms, treatment approaches and how Zano nebulizers are effective in delivering needed medication directly to the lungs. This is why Zano is currently donating a free nebulizer to patients diagnosed with CF. To learn more about this campaign continue reading below. Cystic fibrosis is usually diagnosed in early childhood and although treatment has advanced significantly, it remains a lifelong condition that requires constant treatment.

What is cystic fibrosis?

Cystic fibrosis is a genetic disease that mainly affects the respiratory and digestive systems. It is caused by a mutation in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, which results in the production of a thick and sticky secretion that blocks the airways and pancreas. This causes chronic infections in the lungs, breathing difficulties and problems with digestion and nutrient absorption.

The abnormality found in cystic fibrosis is associated with dysregulated chloride channels in the cell membrane, which end up blocking normal chlorine absorption. Because of this, concentrated salty sweat remains in the ducts of the sweat glands. This leads to the mucus glands producing large amounts of a stringy secretion that obstructs the airways and blocks the small bronchi. This hard textured mucus becomes a medium for infection with various microorganisms, leading to inflammation of the airways. At the same time, the pancreatic ducts are also blocked, preventing pancreatic enzymes from reaching the small intestine. As a result, the absorption of nutrients is impaired, further complicating the patient’s health condition.

Cystic fibrosis in Eastern Europe

Cystic fibrosis is a relatively rare disease in the Balkans, as well as in Europe in general, but this does not make it insignificant. It’s hard to receive accurate calculations in these regions, but there are approximately 150 people in North Macedonia living with CF. Romania reports about 330 cases, while in Bulgaria the number of affected persons ranges from 200 to 250. Albania has a lower range, with fewer than 100 recorded cases, probably due to limited diagnostic capacity and under-reporting. Life expectancy has increased to about 35-40 years. Although the disease is not widespread, there are active global and local organizations and programs aimed at supporting cystic fibrosis patients and their families.

Causes and genetic factors

Cystic fibrosis is an inherited disease that is transmitted by autosomal recessive pathway. This means that in order to develop the disease, an individual must inherit two mutated copies of the CFTR gene – one from each parent. Parents who carry only one mutated copy of the gene are carriers and usually have no symptoms. If two carriers have a child, there is a 25% chance the child will develop cystic fibrosis, a 50% chance of being a carrier and a 25% chance of being completely healthy.

This is why prenatal screening is crucial for a variety of disorders. Identification of the gene mutation in the family allows for prenatal diagnosis as well as identification of carriers. Through this, potential parents can make informed family planning decisions.

Symptoms found in patients

Cystic fibrosis affects various organs and systems in the body, and symptoms can vary greatly from patient to patient. In some they are mildly pronounced or completely absent, while in others they can be severe and lead to life-threatening complications. Symptoms may improve or worsen over time. They mainly manifest in the respiratory and digestive systems.

Respiratory symptoms

The thick and sticky mucus characteristic of cystic fibrosis obstructs the airways and prevents normal air flow to and from the lungs. This can lead to a variety of signs and symptoms, such as:

Chronic cough – Caused by the accumulation of a thick and sticky secretion in the airways.

Shortness of breath and difficulty breathing – Due to the buildup of mucus, the air flow in the lungs is impeded and causes difficulty breathing

Chronic lung infections – Mycosis (mucus) found in the lungs predisposes patients to bacterial infections like bronchitis and pneumonia.

Wheezing – The sound of laboured breathing is common in many cystic fibrosis patients

Nutritional symptoms

Thick mucus can also block the ducts that carry digestive enzymes from the pancreas to the small intestine. This can lead to the following symptoms:

Poor absorption of nutrients

Fatty & slimey stools (steatorrhea) – Due to the body’s inability to absorb fat

Poor weight gain and growth stunting – Because of poor nutrient absorption, children often have trouble gaining weight

Bowel obstruction – especially common in newborns (meconium ileus)

How do symptoms affect patients’ daily lives?

Cystic fibrosis has a significant impact on patients’ daily lives and overall wellbeing. Chronic respiratory problems and the need for regular physiotherapy to clear the lungs from mucus build up, reduce physical endurance and can make patients feel weak. Digestive difficulties require the intake of enzymes and a special diet to ensure patients receive enough nutrients and maintain a healthy weight. Patients often require medications and regular medical care, including frequent visits to doctors and hospital stays due to infections. Due to the frequency of their time spent in hospital and feelings of fatigue, their social life can be limited, and their mental health is subject to stress and anxiety associated with the chronicity of the disease.

Complications of cystic fibrosis

Cystic fibrosis leads to many complications that can affect different organs and systems in the body. In the respiratory system, chronic infections, bronchiectasis and respiratory failure are common. In the digestive system, the disease can cause pancreatic insufficiency, intestinal obstructions and liver disease. Sinus complications often manifest through chronic sinusitis and nose polyps, further complicating respiratory function. The reproductive system can also be affected as men often experience infertility while women experience difficulties during pregnancy. In addition, patients are at risk of osteoporosis and psychosocial (mental health or disorder) problems.

Treatment and management of the disease

The treatment and management of cystic fibrosis involves a variety of approaches aimed at improving patients’ quality of life and symptom management. Regular appointments to monitor health status are essential and a care plan will be drawn up depending on the individual needs of the patient. Treatment for people with cystic fibrosis is usually carried out by a team of healthcare professionals, and in some cases in-patient treatment at a hospital may be necessary. The most common treatment strategies include:

Medicines

Mucolytics: drugs that thin mucus in the lungs, making it easier to remove (acetylcysteine)

Bronchodilators: medicines that dilate the airways and make breathing easier (salbutamol)

Antibiotics: used to treat lung infections common in patients with cystic fibrosis.

Anti-inflammatories: can help reduce inflammation in the lungs

CFTR modulator therapy: drugs that correct defects in the CFTR protein associated with CF

Physical Therapy

Lung physical therapy: techniques to maintain airway patency, including percussion, deep breathing exercises and drainage techniques. Airway patency refers to the ability of the airways to remain open and allow for adequate airflow to reach and exit the lungs

Exercise: Regular physical exercise can improve lunch function and general health

Diet

Patients with CF have specific nutritional needs that result from their increased caloric requirements and difficulty absorbing nutrients. Their diet should be rich in protein, which is necessary to maintain muscle mass, especially in the context of physical activity and treatment.

Healthy fats, such as those from avocados, nuts and olive oil, play an important role in providing energy and improving the absorption of soluble vitamins. Vitamins A, D, E and K are particularly important as cystic fibrosis can make them difficult to absorb, so it is important to include them in their daily intake to prevent deficiencies.

The role of nebulizers in treatment

Nebulizers play a key role in the treatment of cystic fibrosis by providing targeted delivery of a patient’s medication directly into the lungs. Their main function works by inhaling active substances that dilute the thick secretions found in the lungs of CF patients. This helps patients cough out and remove the thick mucus and relieve symptoms. With the help of nebulizers, medications reach the lower airways where they act locally, increasing their effectiveness and minimizing systemic side effects.

The Zano Inspire nebulizer is designed with a focus on ease of use, which is especially important for patients, including children, who may have difficulty with traditional nebulizers. Zano Inspire is compact and lightweight, making it convenient to carry and use in a variety of situations. Additional features, such as automatic activation and visual indicators, make it easier to track dosages and make inhalations more accessible. Its efficiency, quiet regime and intuitive design make it a suitable tool for managing cystic fibrosis symptoms, and improving patients’ quality of life.

Due to frequent use, cystic fibrosis patients may need to replace their nebulizers more often than other users. Therefore, choosing a high-quality nebulizer is essential for long-term use and effective treatment. In this context, the Zano Inspire inhaler stands out for its reliability and functionality. Zano is currently donating a free nebulizer to anyone diagnosed with cystic fibrosis. To find out more about the campaign, click here.

Conclusion

Early diagnosis and timely treatment for cystic fibrosis are key to improving patients’ quality of life and preventing complications. The use of contemporary treatments, such as the Zano Inspire nebulizer, provides new opportunities to manage the condition more effectively.

Early intervention and access to innovative therapies can significantly improve prognosis and provide longer and fuller lives for patients.

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FAQ:

What are the main symptoms of cystic fibrosis?

The most common symptoms include chronic cough, difficulty breathing, frequent lung infections, poor nutrient absorption, fatty stools and stunted growth.

Is there a cure for cystic fibrosis?

Although there is no definitive cure yet, there are modern therapies that significantly improve the quality of life of patients. The main approaches include CFTR modulators, respiratory therapies and physical rehabilitation, dietary regimen.

How does the Zano inspire nebulizer help treat cystic fibrosis and what are its benefits?

Zano Inspire delivers medication directly to the lungs, thinning thick secretions and making breathing easier. The nebulizer is easy to use, compact and effective. Zano also offers a free nebulizer to any patient diagnosed with cystic fibrosis, ensuring access to quality treatment. Find out how to receive a free Zano Inspire nebulizer here.

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