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Cystic fibrosis (CF) is a genetic disease that develops and causes long-term lung infections


Cystic fibrosis (CF) is a genetic disease that develops and causes long-term lung infections

Cystic fibrosis (CF) is a genetic disease that develops and causes long-term lung infections

Cystic fibrosis (CF) is a genetic disease that develops and causes long-term lung infections. In addition, over time it limits the ability to breathe. This disease affects every race and ethnic group. An estimated 70,000 people worldwide are infected with this disease, and 30,000 people are affected in the United States.

The cystic fibrosis transmembrane conduction gene (CFTR) is the cause of CFTR gene dysfunction. When the CFTR gene becomes malfunctioning, it becomes unable to move chloride to the cell surface.  Chloride is a component of salt, and  when it does not function normally and is unable to help move the salt to the cell surface it cannot attract water to the cell surface, and this causes the mucus to become more viscous and thick.

Then the mucus of various organs in the pancreas becomes thick, and this prevents the secretion of digestive enzymes that help the body absorb food and essential nutrients to be absorbed. Ultimately, this thick mucus clogs the bile ducts causing liver disease, malnutrition and poor growth. Men in particular cannot procreate.

Diagnosis of cystic fibrosis

Newborns in the United States are screened for this disorder. Improved medical treatments and care help more than half of people 18 years of age or older can expect to live a full, normal life in their 40s, 50s and beyond.

Early diagnosis is very important in most diseases as treatment can begin immediately. In Northern Europe, their ancestors are considered a genetic carrier of CF. Two or more carriers of this disease give a 25% chance of having a child with this disease. Only 1 in 3,000 white newborns suffers from cystic fibrosis, however, 1 out of 900 mutations in this gene have cystic fibrosis.

At the moment, tests are looking for the most common mutations. Babies can be diagnosed within one month of their birth, even before they develop symptoms. This is true in the United States, but not in all countries.

Cystic fibrosis symptoms

Since sticky mucus with cystic fibrosis plugs block the tubes that carry air to the lungs, infections are a serious problem. Symptoms may include:

  • Persistent cough due to thick mucus.
  • whistling.
  • Multiple and recurrent infections.
  • Recurrent sinusitis, inflammation of the nasal passages.

This thick mucus may also block the tubes that carry digestive enzymes from the pancreas to the small intestine, so the nutrients from the food you eat are not absorbed well. Symptoms include:

  • Poor weight gain and growth.
  • Greasy, foul-smelling stools.
  • Intestinal obstruction, especially in newborns.
  • Chronic or severe constipation that may cause rectal prolapse.


There is no cure for cystic fibrosis, but life expectancy has improved over the years. This disease requires daily care. Eating well is important for preventing malnutrition, and a dietitian may be helpful. It's also important to get all of your routine vaccinations, including the flu shot. These patients use a variety of different medications to prevent lung problems. Some of the medicines include:

  1. Antibiotics for lung infections  .
  2. Keftrio, a combination of 3 medicines (Ivacaftor, tezacaftor and lumacaftor), which can be prescribed to children over 6 or 12 years old in some countries, but this medicine is expensive.
  3. Medicines that thin the mucus in the lungs, making it easier to excrete.
  4. Bronchodilators to widen the airway.
  5. Steroids
  6.  physical therapist can   also help keep the lungs clean, usually with ACBT. ACBT helps clear secretions from the chest using a combination of breathing exercises. The exercises are repeated in a cycle until the lungs are cleared.

Possible complications

There are many potential complications of the  respiratory system  , including: 

  1. Damage to the air passages (bronchiectasis) - a chronic condition that causes abnormal widening and scarring of the airways, making it more difficult to move air in and out of the lungs.
  2. Chronic lung infections, where mucus is a breeding ground for bacteria and fungi.
  3. The lining of the nose is inflamed and swollen, so growths (nasal polyps) occur.
  4. Coughing up blood (hemoptysis) due to airway damage.
  5. A pneumothorax is where air leaks into the space separating the lungs from the chest wall, which can lead to partial or complete collapse of the lung.
  6. Respiratory failure may develop over time.
  7. Acute attacks may worsen respiratory symptoms that require further treatment.

Gastrointestinal complications

  1. Nutritional deficiencies due to the difficulty of blocking nutrients with thick mucus.
  2. Diabetes may occur because the pancreas produces insulin.
  3. Liver disease may occur due to blockage of bile from the gallbladder and liver.
  4. Intestinal obstruction can occur at all ages in patients with cystic fibrosis.

Other complications:-

  1. Infertility is common in men and infertility is common in women.
  2. Thinning of the bones (osteoporosis), increased joint pain and osteoarthritis may occur.
  3. Electrolyte imbalances may occur due to dehydration because patients with this disease have saltier perspiration due to the mineral imbalance, especially with activity.
  4. Mental health problems may be caused by the stress of dealing with a chronic illness.

Cystic fibrosis basics:-

The Cystic Fibrosis Foundation was formed in the 1960s in the United States. They have a patient registry that tracks the care of all patients with this disease.

There is also the European Cystic Fibrosis Society (ECFS) which is an international community of scientific and clinical professionals committed to improving the survival and quality of life of CF patients.

The Australian Cystic Fibrosis Research Fund (ACFRT) is another organization doing the research. Many countries have no record, and patients are often not diagnosed.


A 10-year study recently concluded, which revealed that oral antibiotics can successfully treat infections at home, rather than using intravenous antibiotics. The University of Bristol Hospitals and the Weston NHS Foundation funded this study. The patients who  participated in this study were primarily from the United Kingdom and Italy. In severe cases of cystic fibrosis, a lung transplant may be recommended.