Cystic Fibrosis

Cystic Fibrosis is a genetic disorder that affects the respiratory, digestive and reproductive systems involving the production of abnormally thick mucus linings in the lungs and can lead to fatal lung infections. caused by mutation of cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Epidemiology

The CFTR gene provides instructions for making a protein called the cystic
fibrosis transmembrane conductance regulator. This protein functions as a
channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. The channel transports negatively charged chloride ions into and out of cells. The transport of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus. More than 1,000 mutations in the CFTR gene have been identified in people with cystic fibrosis. Most of these mutations change single amino acids in the CFTR protein or delete a small amount of DNA from the CFTR gene. The most common mutation, called delta F508, is a deletion of one amino acid at position 508 in the CFTR
protein. Disease-causing mutations in the CFTR gene alter the production, structure, or stability of the chloride channel. All of these changes prevent the channel from functioning properly, which impairs the transport of chloride ions and the movement of water into and out of cells.  

As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is abnormally thick and sticky. The abnormal mucus obstructs the airways and glands, leading to the characteristic signs and symptoms of cystic fibrosis.
The mucus often damages the pancreas, impairing its ability to produce insulin and digestive enzymes. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM).
CF also affects other organs such as liver, small intestine, large intestine, bladder, kidneys and also reproductive organs. Also it has other complications such as muscle weakness, thining bone, osteoporosis, low blood pressure, fatigue, fast heart attack and general feeling of weakness.

Symptoms

People with CF can have symptoms including:
-Trouble with bowel movements or frequent, greasy stools
– Wheezing or trouble breathing
– Frequent lung infections
– Infertility, especially in men
– Excessive appetite but poor weight gain

– Skin that tastes very salty
– Persistent coughing, at times with phlegm

Diagnosis

Early diagnosis means early treatment and better health later in life. Each
newborn must be tested by using one or more of these tests:
– Blood test. This test checks the levels of immunoreactive trypsinogen (IRT).
People with CF have higher levels of it in their blood.
– DNA test. This looks for mutations to the CFTR gene.
– Sweat test. It measures the salt in your sweat. Higher than normal results
suggest CF.

Treatment

There’s no cure for cystic fibrosis, but medications and other therapies can ease symptoms.

Medications

 Your doctor may give you drugs to open your airways, thin mucus,
prevent infections, and help your body get nutrients from food. These include:
• Antibiotics. They can prevent or treat lung infections and help your lungs
work better.
• Anti-inflammatory medicines. These include ibuprofen and corticosteroids.
• Bronchodilators.  They’ll relax and open your airways.
• Mucus thinners. They’ll help you get the gunk out of your airways.
• CFTR modulators. These help CFTR work like it should. They can make
your lungs work better and help you gain weight.

Combination therapy. The new medication elexacaftor/ivacaftor/tezacaftor
(Trikafta) combines three CFTR modulators to target the CFTR protein and
make it work for efficiently.

Airway clearance techniques. These can help get rid of mucus. You might try:
– Chest therapy or percussion. This involves tapping or clapping on your
chest or back to clear mucus from your lungs. Someone else does this for
you.

– Oscillating devices. You breathe into a special device that oscillates, or
vibrates, your airways. This loosens mucus and makes it easier to cough up.
You can wear an oscillating chest vest instead.
Physical therapy for CF. This includes breathing exercises designed to push air between layers of mucus and your chest wall.