Diseases

Your complete guide to Cystic Fibrosis

Cystic fibrosis is a genetic disorder that causes serious damage to the respiratory and digestive system of the body. It basically targets your lungs, liver, pancreas, intestines, and kidneys also. Difficulty in breathing and coughing up thick mucus are the common characteristics of cystic fibrosis that indicate infections in the lungs.

What happens during the disease?

The key characteristic of cystic fibrosis includes high levels of thick, sticky mucus that builds up in your organs especially lungs. In addition, it also affects the cells of sweat glands. Normally, these secretions are smooth and lubricating in nature. They provide cushioning effect to the organs preventing them from getting dry or infected.

On contrary, the patients of cystic fibrosis have thick and sticky forms of these fluids. This may be a result of some faulty gene with altered functions. The abnormally thick body fluids clog the ducts, tubes, and body passageways. It may lead the individual to complications including respiratory failures, malnutrition, and certain corporal infections.

Every year, cystic fibrosis is diagnosed among thousands of American people. People with such a disease lead a normal life, however, require daily care.

Causes of Cystic fibrosis

Cystic fibrosis is basically a genetic flaw. It occurs as a result of a defect in the “cystic fibrosis transmembrane conductance regulator gene” or the CFTR gene.

 

CFTR gene regulates the movement of water and salt in and out of the cells in the body. Mutation in the gene alters its function which causes excessive production of thicker and stickier mucus. This abnormal mucus builds up throughout the body including intestines, pancreas, liver, and lungs etc.
The abnormal functioning of CFTR gene also increases the amount of salt in our sweat.

Diagnosis of Cystic fibrosis

Certain screening tests help with the diagnosis of the disease. Most of the European countries subject their newborns to the diagnostic or screening tests, shortly after their birth. “Newborn blood spot test” is a common screening test for cystic fibrosis.
Positive results of the screening tests lead to some additional tests that are done in order to confirm the disease. These confirmation tests include,

  1. A sweat test that measures the salt content in the sweat which is abnormally high in the diseased individuals.
  2. A genetic test that checks for the faulty gene, in the blood or saliva, which causes cystic fibrosis. It also reveals the chances of an individual to be a carrier for the disease. Moreover, it also confirms the probability of the disease to appear in the expected future progenies.

Symptoms of Cystic fibrosis

The symptoms of cystic fibrosis vary from person to person and with age. In some cases, symptoms may appear at earlier stages of life but in other cases, they may appear at or after puberty.

These symptoms include,

  • The saltiness of the skin

One of the foremost signs of cystic fibrosis is a strong salty taste of the skin. Parents of the affected children have mentioned that they could taste the saltiness while kissing their children.

  • Respiratory issues

Cystic fibrosis basically thickens mucus and other body fluids. This resultantly blocks the air passages and ducts which lead to respiratory issues like,

  • Breathlessness
  • Stuffy nose and sinuses
  • Infected lungs
  • Recurring, persistent cough with thick mucus or phlegm

  • Digestive problems

The thick, abnormal mucus also interrupts the digestive tubes or ducts. It hinders the transport of digestive enzymes which results in improper absorption of nutrients from food. Common digestive issues of the cystic fibrosis’ patients include,

  • Constipation
  • Nausea
  • Greasy stools
  • Loss of appetite and poor weight gain

Health problems associated with Cystic fibrosis

Following are some health risks or complications associated with cystic fibrosis,

  • Weak or brittle bones
  • Diabetes
  • Nasal polyps
  • Sinus infections
  • Liver and fertility problems

Steroids, antihistamines, antibiotics and other medicines can help minimize the damage caused by these problems.

How can you treat Cystic fibrosis?

Cystic fibrosis is not completely curable. There are various treatments and medications available that may relieve the symptoms of the disease and reduce the risks of associated complications.

  1. Antibiotics are available to minimize the infections in the organs especially lungs. They’re usually given as tablets or capsules. In case of severe conditions, injections and infusions are employed.
  2. In order to make the mucus thin and less sticky, mucus thinning medications are also available. They enhance the coughing up of mucus making the lungs to function properly.
  3. Nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen and indomethacin, may help to lessen pain and fever.
  4. Broncho-dilators are available in the market which act as muscles’ relaxant. They ease the flow of air through the lungs and airways. Inhalers and nebulizers employing the respective relaxant can serve the purpose.
  5. Owing to the fact that cystic fibrosis interferes with absorption of nutrients, an artificial feeding tube is surgically inserted directly into the body for the sack of direct supply of the nutrients.
  6. People in some cases also opt for a lung transplant, where a damaged lung is replaced with a healthy one that is usually donated by a deceased individual. This surgery can help people with severe breathing problems, however; it may also cause complications like pneumonia.
  7. Chest therapies also help to minimize the thick mucus content by making it easier for the patient to cough it up. This therapy is carried out one to four times a day. It involves clapping along with the sides of the chest with cupped hands while placing your head over the edge of a bed.
  8. Chest clappers and inflatable vests are also some mechanical devices available to clear the mucus. Chest clappers imitate the effects of clapping with cupped hands. On the other side, the inflatable vest vibrates at a high frequency to help remove the mucus.
  9. Cystic fibrosis, as mentioned above, hinders the transport of enzymes through the digestive tract which affects their relevant functions. for this purpose, enzyme enclosed capsules e.g. pancreatic enzyme capsules are consumed with every meal. Antacids, multivitamins, a high fiber diet is also recommended.

Is Cystic fibrosis inheritable?

Cystic fibrosis is inherited in an autosomal recessive manner. Both of the copies of CFTR gene must be mutated for the disease to occur. Individuals with one altered copy of the gene don’t develop the disease, however; they will be carriers of the defective gene and may transfer it to their children. People with family histories of cystic fibrosis are at greater risks of developing the disease.

How to prevent Cystic fibrosis?

Cystic fibrosis is a preventable disease. Couples intending to marry can undergo genetic testing if they have family histories of cystic fibrosis. Moreover, pregnant women can take genetic tests in order to evaluate the chances of disease. Safety measures, recommended medications and practices must be implied in order to keep the worse conditions at bay.

Here are some important steps to be regularly taken in order to minimize the damage caused by the disease,

  • Acquire plenty of fluids, it may help thin the mucus easing it for the patient to cough it up.
  • People should do regular exercises like walking, biking, and swimming .
  • Try to avoid smoke, pollens, and molds at maximum. These irritants can render the situation worst.
  • People should immunize against influenza and pneumonia to avoid additional infections.

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