Cystic Fibrosis- Symptoms, Causes, Diagnosis and Treatment

Cystic fibrosis is a genetic disorder that causes thick, sticky mucus to build up in the lungs and digestive tract. Cystic fibrosis can damage both respiratory and digestive systems. People with cystic fibrosis have mutated genes that cause the secretions to become sticky and thick. These thick secretions clog the tubes, ducts, and passageways in the body.

Cystic fibrosis affects the cells that produce sweat, mucus, and digestive enzymes. Usually, the fluid produce by these cells is thin and slippery. The organs which are most commonly affected by cystic fibrosis are the lungs, pancreas, liver, and intestines.

Cystic fibrosis is an inherited disorder which’s why the symptoms may occur at any age. The most common symptoms of CF are:
1.Wheezing and shortness of breath
2.Persistent cough with thick mucus
3. Recurring sinus infection
4.Very salty sweat
5.Bowel disturbances such as intestinal obstruction or frequent oily stools
6. Loss of weight and poor growth
7.Osteoporosis and arthritis
8.Infertility in both men and women.

Cystic fibrosis is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. The movement of salt and water in body cells is controlled by this gene. Thick and sticky mucus builds up in your body due to changes in the CFTR gene.
To get cystic fibrosis, a child must inherit one copy of the mutated gene from each parent. If the child inherits only one copy, they wouldn’t have any symptoms or develop the disease, but they will be a carrier of the defective gene which means they may transfer the mutated gene to their own children.

To diagnose CF some tests were performed, some of which include:

Immunoreactive Trypsinogen (IRT) Test:
The immunoreactive trypsinogen (IRT) test is a newborn screening test that shows infants who have an abnormal level of an enzyme called immunoreactive trypsin in their blood.
IRT is normally found in small levels in the body. But in CF, IRT levels tend to be high. However, for confirmation of CF other tests were also performed.

Sputum Test:
In this test, the sputum sample is obtained by coughing and examined in the laboratory. Sputum test detects respiratory tract infections or other lung-related disorders that help a doctor to prescribe the most effective antibiotics against a specific infection.

Sweat Chloride Test:
The sweat chloride test is a reliable test for the diagnosis of CF. This test measures the amount of salt in the sweat using a small electric current. The sweat is collected on a gauze or a pad and then observed. People with CF have high levels of chloride (salt) in their sweat.

Chest X-Ray:
In patients with cystic fibrosis chest x- rays are useful by observing swelling in the lungs due to blockage in the respiratory passageways.

Spirometry Test:
A spirometry test determines how well the lungs are working. In this test, a machine is used, called a “spirometer” which records how much air the lungs can take in during forceful inspiration. The recorded numbers are used to monitor the development of cystic fibrosis and the effectiveness of any treatment.

There is no permanent cure for cystic fibrosis, but there have been many advances in CF treatment and there are also new treatments that target fixing the mutated CFTR gene.

Airway Clearance Therapy:
Airway clearance therapy help to lose the thick and sticky mucus in the airways, enabling you to cough it up. Clearing the airway mucus improves lung function and helps decrease lung infections. There are different ways to clear your airways. The chest physical therapy or a device worn over the chest helps to clear airway secretions.

Mucus Thinning Medications:
Mucus thinning medications relax the airways, make the mucus thinner and less sticky, which helps to clear thin mucus through coughing.

Antibiotics are used frequently to get rid of lung infections. Antibiotics can be given orally, by inhalation and in severe cases, antibiotics can be given intravenously through injections.

Anti-inflammatory Drugs:
The anti-inflammatory drugs are used to reduce airway inflammation. There are two medications currently in use, Azithromycin which is an antibiotic but used as an anti-inflammatory agent to treat cystic fibrosis, and Ibuprofen which is not recommended for patients who have severe lung function it only works on patients who have good lung function.

To conclude my article, I am just gonna quote these words of Max Carver:

“ While there is no cure, cystic fibrosis is so close to being a livable disease. There is a lot of hope

Hello everyone! My name is Nayma Tariq and I’m a student of Physiology. Doing my Graduation from Karachi University Pakistan.