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

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.

Treatments

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. A   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.