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MONDAY HEALTH: Cystic Fibrosis.

What is Cystic fibrosis?

This is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.

In with cystic fibrosis, mutations in the cystic fibrosis Tran’s membrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride a component of salt to the cell surface. Without chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.

Symptoms of Cystic Fibrosis.

1. Very salty tasting skin.

2. Persistent coughing, at times with phlegm.

3. Male infertility.

4. Wheezing or shortness of breath.

5. Frequent lung infections including pneumonia or bronchitis.

6. Poor growth or weight gain in spite of a good appetite.

Causes.

In cystic fibrosis, a defect (mutation) in a gene the cystic fibrosis Tran’s membrane conductance regulator (CFTR) gene changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat.

Prevention.

If you and your partner have a close relative with cystic fibrosis you both may choose to have genetic testing before having children. The test which is performed in a lab one sample of blood can help determine your risk of having a child with CF.

Genetic testing is not for everyone. Before you decide to be tested you should talk to a genetic counselor about psychological impact the result might carry.

Diagnosis.

Immunoreactive trypsinogen test (IRT).

The immunoreactive trypsinogen test is a standard newborn screening test that checks for abnormal levels of the protein called IRT in the blood.

A high level of IRTY may be assign of cystic fibrosis. However, further testing is required to confirm the diagnosis.

Sputum test.

During a sputum test, the doctor takes a sample of mucus. The sample can confirm the presence of a lung infection. It can also show the types of germs that are present and determine which Antibiotics work best to treat them.

CT scan.

A CT scan creates detailed images of the body by using a combination of x rays taken from many different directions. These images allows your doctor to view internal structures eg liver making it easier to assess the extent of organ damage caused by cystic fibrosis.

Chest x ray.

A chest x ray is useful in revealing swelling in the lungs due to blockages in the respiratory passageways.

Sweat chloride test.

The sweat chloride test is the most commonly used test for diagnosing cystic fibrosis. It checks for increased levels of salt in sweat. A diagnosis of cystic fibrosis is made when if the sweat is saltier than normal.

Pulmonary function tests (PFTs).

The test determines whether your lungs are working normally. An abnormality may indicate cystic fibrosis.

Treatment.

Although there is no cure for cystic fibrosis, there are various treatments available that may help relieve symptoms and reduce the risk of complications.

Medications.

Antibiotics may be prescribed to get rid of a lung infection from occurring in future.

Nonsteroidal  anti flammatory drugs such as ibuprofen have a limited role as an agent to reduce airway inflammation.

Cystic fibrosis Tran’s membrane conductance regulator (CFTR) modulator is a class of drugs that act by improving the function of the defective CFTR gene. These drugs represent an important advance in management of cystic fibrosis because they target the function of the mutant CFTR gene rather than its clinical consequences.

Bronchodilators relax the muscles around the tubes that carry air to the lungs; they can be taken through inhaler or nebulizer.

Surgical procedures.

Bowel surgery. This is an emergency surgery that involves the removal of a section of bowel to relieve blockage in the bowel.

Feeding tube. Cystic fibrosis may interfere with digestion and prevent absorption of nutrients from food. A feeding tube may be passed through the nose or directly through the stomach.

Double lung transplant.

When medical management alone can no longer maintain lung health and physical function, this procedure can improve the length and quality of life for a person with cystic fibrosis.

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