What is cystic fibrosis?

What is cystic fibrosis?

Cystic fibrosis is a progressive genetic disease that affects the lungs, pancreas, and other organs.

Cystic fibrosis - incidence and age

While cystic fibrosis is generally a rare condition, it is one of the most common inherited diseases, particularly in Europe. Approximately four percent of the population carries a gene defect that can lead to cystic fibrosis, but it only develops if both parents pass on this genetic mutation. This occurs in about one out of every 2,700 newborns. There are now more adults with cystic fibrosis than children, indicating improved survival rates.

Cystic fibrosis only develops when both parents have passed on the gene affected by a mutation. Healthy individuals with one altered gene do not develop cystic fibrosis but can pass on the predisposition to their children. Cystic fibrosis is a progressive genetic disease that aff Cystic fibrosis is a progressive genetic disease that affects the lungs, pancreas, and other organs. ects the lungs, pancreas, and other organs.

Just a few decades ago, the life expectancy of individuals with cystic fibrosis rarely exceeded twenty years. Today, thanks to modern treatment methods, including treatment in Switzerland, many people with cystic fibrosis live more than twice as long. Cystic fibrosis is a progressive genetic disease that affects the lungs, pancreas, and other organs. Cystic fibrosis is a progressive genetic disease that affects the lungs, pancreas, and other organs.

What are the symptoms of cystic fibrosis?

Thanks to newborn screening, cystic fibrosis can be diagnosed within the first month of life before symptoms appear. However, for individuals born before newborn screening was available, the diagnosis may not be made until symptoms and signs of cystic fibrosis become evident.

Symptoms and signs of cystic fibrosis vary in severity. Even within the same person, symptoms can worsen or improve over time. Some people may not experience symptoms until adolescence or adulthood. People who are not diagnosed until adulthood typically have a milder course of the disease and are more prone to atypical symptoms, such as recurrent pancreatitis, infertility, and recurrent pneumonia. infertility and recurrent pneumonia.

In individuals with cystic fibrosis, the salt level in their sweat is higher than normal. Parents often notice a salty taste when they kiss their children. Most other symptoms and signs of cystic fibrosis affect the respiratory and digestive systems.

Classic Cystic Fibrosis

Classic Cystic Fibrosis

  • Failure to thrive (inability to gain weight despite a good appetite and adequate caloric intake).
  • Loose or greasy stools.
  • Breathing difficulties.
  • Recurrent wheezing.
  • Frequent lung infections (recurrent pneumonia or bronchitis).
  • Recurrent sinus infections.
  • Slow growth.
  • Atypical Cystic Fibrosis

Atypical cystic fibrosis

People with atypical cystic fibrosis may not be diagnosed until they are adults. Respiratory symptoms and signs may include:

  • Chronic sinusitis.
  • Breathing problems, possibly diagnosed as asthma or chronic obstructive pulmonary disease (COPD).
  • Nasal polyps.
  • Frequent pneumonia episodes.

Other symptoms and signs of atypical cystic fibrosis may include:

  • Dehydration or heatstroke, revealing abnormal electrolyte levels.
  • Fertility problems.
  • Diarrhea.
  • Pancreatitis
  • Unintentional weight loss.

How is cystic fibrosis (CF) diagnosed?

In most cases, CF is diagnosed in childhood. Doctors diagnose cystic fibrosis through a careful evaluation and the use of various tests, including:

  • Newborn screening: Your treating doctor takes a few drops of blood from your baby's heel, usually while your newborn is in the hospital, and places the drops on a special card. Sweat test: The sweat test measures the amount of chloride in the body's sweat, which is higher in people with cystic fibrosis. During the test, your treating doctor applies a chemical substance called pilocarpine to your skin and then applies a small amount of electrical stimulation to stimulate sweat gland secretion. Your doctor then collects the sweat in a plastic coil, on a piece of filter paper, or gauze. People of any age can undergo this test, and it is not painful and does not involve needles. It is the most convincing test for cystic fibrosis.
  • Genetic tests: : Blood samples are tested for genes that cause cystic fibrosis.
  • Chest X-ra : Your doctor may order a chest X-ray to support or confirm the diagnosis of cystic fibrosis, but a chest X-ray is not the only test needed to confirm the diagnosis. Other tests must be done.
  • Pulmonary function tests . The most common test for lung function uses a device called a spirometer. You inhale fully, then exhale into the spirometer mouthpiece.

  • Sputum culture: Your treating doctor takes a sample of your sputum (saliva) and checks it for bacteria. Some bacteria, such as Pseudomonas, are most commonly found in people with cystic fibrosis.
  • Pulmonary function tests: The most common test for lung function uses a device called a spirometer. You inhale fully, then exhale into tThe most common test for lung function uses a device called a spirometer. You inhale fully, then exhale into the spirometer mouthpiece.he spirometer mouthpiece.
  • Sputum culture Your treating doctor takes a sample of your sputum (saliva) and checks it for bacteria. Some bacteria, such as Pseudomonas, are most commonly found in people with cystic fibrosis. Pseudomonas , чаще всего встречаются у людей с муковисцидозом.
  • Nasal potential differenceNasal potential difference (NPD): (NPD): This test uses a voltmeter and electrodes placed in two locations in the nose and one location outside the nose to measure the electricity generated by ion transport in a solution through nasal tissue. Three different types of solutions are used in the test.
  • Sputum culture: For this test, you will need a biopsy of rectal tissue. The tissue is made to release chloride, which is then measured.

In people with atypical cystic fibrosis, the sweat test may appear normal in terms of chloride levels. Some people with atypical cystic fibrosis may have been born before testing became routine.

When to see a doctor:

If you or your child has symptoms of cystic fibrosis, or if someone in your family has cystic fibrosis, talk to your doctor about testing for this condition. Consult with a doctor who is knowledgeable about cystic fibrosis.

Cystic fibrosis requires regular and ongoing medical monitoring, at least every three months. See a doctor if you experience new or worsening symptoms, such as an increased amount of mucus, changes in mucus color, lack of energy, weight loss, or severe constipation.

Seek immediate medical help if you cough up blood, experience chest pain or difficulty breathing, severe abdominal pain, and bloating.