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Understanding Cystic Fibrosis Basics

Cystic fibrosis is a genetic disease that causes thick, sticky mucus to build up in the lungs and digestive tract. This is caused by mutations in the CFTR gene which prevent the CFTR protein from regulating chloride transport. The thick mucus in the lungs leads to chronic lung infections and respiratory failure over time. Symptoms include salty skin, persistent coughing, wheezing, weight loss, and greasy stools. Treatments involve daily airway clearance techniques, inhaled medicines, enzyme supplements, exercise, and targeted therapies to address the underlying CFTR protein defect. The Cystic Fibrosis Foundation supports research to discover new treatments and ultimately develop a cure.

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Sabina Moolye
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51 views2 pages

Understanding Cystic Fibrosis Basics

Cystic fibrosis is a genetic disease that causes thick, sticky mucus to build up in the lungs and digestive tract. This is caused by mutations in the CFTR gene which prevent the CFTR protein from regulating chloride transport. The thick mucus in the lungs leads to chronic lung infections and respiratory failure over time. Symptoms include salty skin, persistent coughing, wheezing, weight loss, and greasy stools. Treatments involve daily airway clearance techniques, inhaled medicines, enzyme supplements, exercise, and targeted therapies to address the underlying CFTR protein defect. The Cystic Fibrosis Foundation supports research to discover new treatments and ultimately develop a cure.

Uploaded by

Sabina Moolye
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Chap 1 Cystic fibrosis

What Is Cystic Fibrosis?


Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the
ability to breathe over time.
In people with CF, mutations in the cystic fibrosis transmembrane 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 the chloride to
attract water to the cell surface, the mucus in various organs becomes thick and sticky.

In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading
to infections, inflammation, respiratory failure, and other complications. For this reason, minimizing
contact with germs is a top concern for people with CF.
In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body
absorb food and key nutrients, resulting in malnutrition and poor growth. In the liver, the thick mucus
can block the bile duct, causing liver disease. In men, CF can affect their ability to have children.

Symptoms of CF
People with CF can have a variety of symptoms, including:

 Very salty-tasting skin


 Persistent coughing, at times with phlegm
 Frequent lung infections including pneumonia or bronchitis
 Wheezing or shortness of breath
 Poor growth or weight gain in spite of a good appetite
 Frequent greasy, bulky stools or difficulty with bowel movements
 Male infertility

The CF Foundation accredits more than 130 care centres that are staffed by dedicated
healthcare professionals who provide expert CF care and specialized disease management.

Treatments
Each day, people with CF complete a combination of the following therapies:

 Airway clearance to help loosen and get rid of the thick mucus that can build up in the
lungs. 
 Inhaled medicines to open the airways or thin the mucus. These are liquid medicines
that are made into a mist or aerosol and then inhaled through a nebulizer and
include antibiotics to fight lung infections and therapies to help keep the airways clear.
 Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients.
These supplements are taken with every meal and most snacks. People with CF also
usually take multivitamins. 
 An individualized fitness plan to help improve energy, lung function, and overall
health
 CFTR modulators to target the underlying defect in the CFTR protein. Because
different mutations cause different defects in the protein, the medications that have
been developed so far are effective only in people with specific mutations.

The CF Foundation supports research to discover and develop new CF treatments and


maintains a pipeline of potential therapies that target the disease from every angle. 

Today, the Foundation is focused on developing lifesaving new therapies for larger numbers


of people with CF -- including those with rare and nonsense mutations -- and pursuing daring,
new opportunities to one day develop a lifelong cure. 

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