Diagnosing cystic fibrosis

  • What is cystic fibrosis? 
  • How is it diagnosed? 
  • Free and reliable care for cystic fibrosis patients 

Cystic fibrosis is an inherited genetic disease that primarily affects the respiratory and digestive systems. In people with cystic fibrosis, there is an accumulation of thick and sticky secretions in the organs, which makes it difficult for them to function normally. This most often leads to chronic lung problems, infections, as well as disorders that concern digestion and properly absorbing nutrients. 

The most important thing to know about cystic fibrosis is that it is a serious condition that can fortunately be managed with proper care and treatment. The disease itself happens because of mutations in the CFTR gene. This specific gene controls the movement of salt and water within the cells. In patients with cystic fibrosis, this process is disrupted, which leads to the accumulation of these thick and sticky secretions in various organs.  

An early diagnosis is key to improving the quality of life of patients. Through timely diagnosis and starting appropriate treatment, complications such as severe lung infections and permanent organ damage can be prevented. This allows patients to begin therapy aimed at maintaining their respiratory and digestive system functions. In this article we will discuss all you need to know about the diagnosing process and an initiative started by Zano. Zano has an active campaign where it donates a free nebulizer to everyone diagnosed with cystic fibrosis. To find out more about the campaign read below.

Cystic fibrosis requires a comprehensive approach to diagnosis and treatment. Familiarity with the diagnostic tests as well as the available therapy options is essential for patients and their loved ones. In the following lines, we will look at what tests are carried out to confirm the diagnosis and what the next steps are when it is made. 

Diagnosing cystic fibrosis usually begins with neonatal screening, which fortunately is standard practice in many countries. Neonatal screening measures the level of a specific enzyme in a newborn’s blood called immunoreactive trypsinogen (IRT). Elevated levels of this enzyme can be an indicator of cystic fibrosis, which would require further testing for a definitive diagnosis. 

The most reliable test to prove cystic fibrosis is the sweat test. This diagnostic method is usually done in babies who are over two weeks old. This is the stage of development where their sweat glands are mature enough to produce the required amount of sweat for the test. The test measures the concentration of salts, particularly sodium and chloride, in sweat. In people with cystic fibrosis, the levels of these electrolytes are significantly higher than normal due to a defect in the protein that regulates the movement of salt and water in cells (the aforementioned CFTR gene). 

The procedure is simple and non-invasive – a substance that stimulates sweating is applied to a small area of skin (usually on the arm or leg), after which the sweat is collected in a small test tube or on special paper. The test is carried out twice to ensure the accuracy of the results. It’s important to know that the sweat test is painless and safe, and results are usually ready within a few days. 

The test is recommended for infants and toddlers who are suspected of having cystic fibrosis based on symptoms or positive neonatal screening results but can also be performed on older children or adults who are suspected of having the disease. 

A genetic test which identifies mutations in the CFTR gene is another important step in the diagnostic process. This test is particularly valuable because cystic fibrosis is inherited and caused by a variety of genetic mutations. The test can be performed on newborns as well as older children or adults when the disease is suspected based on symptoms or neonatal screening results. The test involves taking a small amount of blood or saliva and then analysing the DNA for known mutations in the CFTR gene. 

Genetic test results are extremely useful, especially in cases where sweat test results are borderline or unclear. Confirming the diagnosis by genetic testing can be crucial in determining the appropriate treatment and supportive therapy. In addition, identifying specific mutations can provide information about possible genetic risks for future generations and for family planning. 

 Once an official diagnosis is confirmed, several steps are taken to better control the condition. Initially, examinations are carried out by a multidisciplinary team that includes pulmonologists, gastroenterologists, nutritionists and physiotherapists. They develop a personalised treatment plan aimed at maintaining lung function and proper digestion for the patient. 

It’s very common after receiving a diagnosis, to do further investigations such as lung X-rays and pulmonary function tests are performed to assess breathing capacity. Further examinations of the digestive system may also be part of this process to assess whether there is a need for further measures to improve nutrient absorption. 

When treating and maintaining cystic fibrosis, nebulizers play a very important role. Nebulizers are important tools that help improve respiratory function and relieve symptoms associated with this disease.

Some of the benefits of nebulizers: 

  • Ease of use: nebulizers offer a quick and convenient way to administer medication directly into the lungs, which is especially important for cystic fibrosis patients due to the regularity of their treatments. 
  • Improved respiratory function: they help to dilate the airways and reduce inflammation, which can lead to better oxygen saturation and symptom relief. 
  • Reducing infections: the regular use of nebulizers can help prevent respiratory infections, which are common in patients with cystic fibrosis.

When choosing an nebulizer, it is important to pay attention to quality, as cystic fibrosis patients will be using them more often than the average user. High-quality nebulizers provide reliability and efficiency, which is key to achieving optimal therapy. 

Zano Inspire offers nebulizers which can meet the needs of cystic fibrosis patients. In addition to providing quality and effective therapy, Zano is donating a free nebulizer to anyone diagnosed with cystic fibrosis. This is an important initiative that helps patients get the tools they need to control their disease and ensure a better quality of life, with one less worry about paying for a quality nebulizer. Choosing the right nebulizer is important for the effectiveness of treatment and quality of life for cystic fibrosis patients. To find out more about Zano’s free nebulizer campaign, click here.  

It’s important to discuss and acknowledge how daily life, social interactions and health risks change for people living with cystic fibrosis. In the following section we’ll look at the main challenges patients face.  Awareness and preparation for managing the condition are an important part of coping with it. 

As we have already learned, cystic fibrosis is a genetic disease that causes a build-up of thick, sticky secretions in various organs, especially the lungs and digestive system. This can lead to numerous challenges in the daily life of those affected. 

First, frequent medical visits and treatments become a part of the patients daily routine. Patients frequently need to see doctors, specialists and have regular tests done, which can impact their study or work commitments. Second of all, because of the risk of getting an infection, many people with cystic fibrosis must avoid certain public places and events, especially during epidemics or flu seasons, which can lead to social isolation. 

On the other hand, daily physical activity, which is important for maintaining physical and mental health, can also be hindered. Patients may feel tired or have difficulty breathing, making it difficult to carry out normal physical activities. Additionally, a specific diet and frequent intake of supplements and medications can add further stress, as maintaining a proper diet is essential to their health. 

Cystic fibrosis carries a number of risks and challenges that can affect a patient’s quality of life. One of the main challenges is managing chronic lung infections. Due to the thick secretions in the lungs, patients are at higher risk of infections that can lead to progressive damage to lung and respiratory function. This is where inhalers such as the Zano Inspire come in, which when used frequently, reduces the risk of developing lung infections. 

Another important danger is indigestion, which results from insufficient production of pancreatic enzymes. This can lead to difficulties in nutrient absorption, which is especially critical for children and adolescents who are growing up. Lack of essential vitamins and minerals can affect overall health and lead to stunted growth and development. 

The psychological aspects of this condition should not be ignored. Life with cystic fibrosis can be stressful, and many patients struggle with anxiety and depression. Support from family, friends, online support groups and medical professionals is critical to help manage these emotional challenges. 

Diagnosis and treatment of cystic fibrosis require constant monitoring and an individual approach for each patient. Modern diagnostic methods and advances in treatment offer hope for a significant improvement in the quality of life of patients. It’s important that patients and their families are informed of their available options and actively work with the medical team to maintain optimal health. 

The Zano Inspire nebulizer offers an innovative approach to symptom management that ensures an improved quality of life for people with cystic fibrosis. To find out more about how to receive a free nebulizer click here. Through active collaboration with a multidisciplinary medical team and awareness of available treatment, patients can make significant progress in treating and managing the disease. 

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What are the advantages of Zano Inspire compared to traditional nebulizers? 

  • Zano Inspire offers innovations in design and function that allow for ease of use and more efficient absorption of medications.  

How does Zano Inspire fit into patients’ daily routines? 

  • Zano Inspire is designed to be comfortable for everyday use anywhere and everywhere. Patients can integrate it into their routine while following their doctor’s instructions regarding frequency of use and required dosages of prescribed medications. 

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