2. What is CF?
Cystic Fibrosis is a hereditary disease that
causes people to produce very thick
mucus in their respiratory and digestive
tracks. No cure has been found for CF yet
but it does appear that CF is caused by a
flaw in the membrane proteins of a cell.
3. Symptoms
CF has many symptoms. Symptoms will often
stand out at birth or infancy. Symptoms are
Frequent or acute lung infections
Very salty-tasting skin
Little growth and development despite a good and
healthy appetite
Coughing and wheezing
Shortness of breath
A persistent cough, often coughing up mucus.
4. Diagnosis
Near 70% of CF patients are diagnosed by
the age of 2. To find CF, there are a
variety of different test.
Some tests are the sweat test, genetic
testing, and newborn screening tests.
5. The Sweat Test. Diagnosis (Continued)
Genetic/Blood Testing
•The sweat test is a simple test done by
simply collecting the patients sweat. •Because CF is hereditary it can be
found in a patient’s DNA.
•A lab technician applies a chemical that
causes perspiration onto the patients •People can be either carriers of CF,
dermis and then adds a faint electrical affected by it, or be non-carriers that
charge that will produce sweat. aren’t affected by it.
•If there is a large content of sodium in C c
the sweat it does suggest CF might be
there if other symptoms are also evident *More
CC Cc than 10
C Non-affectedNon-affected million
Newborn Screening
Non-carrier. Carrier American
•A newborn’s pancreas is tested to see -s would
fall under
if it produces a large amount of the Cc
immunoreactive trypsinogen. Cc Cc category.
c Non-affected Affected
•If larger than normal amounts are Carrier Carrier
found it does suggest that CF might be
there.
C (gene that blocks CF) c (gene that doesn’t block CF
6. Causes
CF has many different causes. But, they all deal with a genetic
mutation on the 7th human chromosome.
What happens is the cystic fibrosis transmembrane conductance
regulator (CFTR) gene has a mutation along the chromosome. The
CFTR gene produces a protein called the CFTR protein that helps
regulate the flow of salt and water in and out of the cell.
The most common mutation is called the ΔF508. This causes a
deletion of three nucleotides along the gene. The gene then
produces a bad protein that is missing three amino acids at the 508 th
link of the amino acid chain in the protein.
The bad CFTR protein deteriorates before it can reach the
membrane.
This results in an improper balance of salt and water inside or out of
the protein causing abnormally thick mucus to form.
7. Effects
CF takes large effects on individuals. A main problem is with the
respiratory system. Because of such thick mucus, bacteria can grow
extremely rapidly in the lungs and other parts of the respiratory
system causing infections and it becomes too thick for the cilia to
move out of the system.
In addition, another major problem is within the digestive system.
The thick mucus coats the pancreas to the
point where it cannot release digestive
enzymes into food to help break it down and
get the nutrients into the body. This can
cause a very slow and small amount of
growth and weight increase in a person;
which at times, can be quite dangerous to
the individual.
A proper CFTR protein.
8. Treatment
CF treatments are now being backed up
by organizations such as the Cystic
Fibrosis Foundation and the American
Lung Association. Because of this, new
research is helping people fight against
the disease.
9. Treatment- Diet.
A healthy, high-calorie diet can improve
the growth of someone who has CF if they
take digestive enzymes to go with it.
Eating plenty of fruits can provide one with
natural antioxidants which will help reduce
infection in lungs.
10. Treatment- Drug Therapy
Many new drugs have been developed in
research labs to combat CF symptoms.
Many pills help add chemicals to CFTR proteins
that can help them work properly so they can
produce thinner mucus.
This can reduce the effects of CF.
Antibiotics also help fight and break cycles of
infection in the lungs.
11. Prognosis
CF can be very hard to live with for its patients. Plus, the average
life expectancy of someone with CF is only about into their late 30’s.
To help increase a CF patient’s life span, it is recommended that
they are physically active and are improving their cardiovascular
fitness.
Because mucus is an ideal spot for infections, people with CF
should try to avoid coming into contact with coughing people, sick
people, or touching their mouth or nose after having touched
something like a door knob or railing.
12. Bibliography
Fibrosis Foundation, Diagnostics, Sweat Test. Cystic Fibrosis Foundation, 22
Mar. 2011. Web. 22 Oct. 2012.
<http://www.cff.org/AboutCF/Testing/SweatTest/>.
N/A, N/A. "CFTR (gene)." Wikipedia. Wikimedia Foundation, 04 Sept. 2012. Web.
22 Oct. 2012. <http://en.wikipedia.org/wiki/CFTR_(gene)>.
F, Edward, Dr. "Global Healing Center." Health Products & Information.
Global Healing Center, 24 Sept. 2008. Web. 23 Oct. 2012.
<http://www.globalhealingcenter.com/natural- health/health-benefits-of-
antioxidants/>.
About UNLV." Cystic Fibrosis Walk. Ed. University of Nevada, Las Vegas.
University of Nevada, Las Vegas, 2012. Web. 23 Oct. 2012.
<http://go.unlv.edu/event/cystic-fibrosis-walk-quotgreat- stridesquot?delta=0>.
Koboldt, Daniel C. "MassGenomics." Massgenomics. Wordpress, 2012. Web. 23 Oct.
2012. <http://massgenomics.org/2011/02/a-promising-new-drug-for-cystic-
fibrosis.html>.
