1. Cystic Fibrosis (CF)
Created by Hannah B.

2. What is Cystic Fibrosis?
A genetic disorder caused by inherited
mutations in the gene CFTR that causes
problems in the lungs, digestive track, liver,
airways, and many other areas of one’s body.
In some cases it can lead to a certain type of
diabetes and osteoporosis.

3. A chart
describing
how the
cystic
fibrosis gene
is inherited,
considering
that it takes
two of the
genes for the
symptoms of
the disorder
to be
noticed.

4. Symptoms of Cystic Fibrosis
 Respiratory:
 A persistent cough that produces thick mucus
 Wheezing or lack of breath
 A lowered ability to do exercise
 Repetitive lung infections
 A persistent stuffy nose and inflamed nasal passages
 Digestive:
 Foul smelling and greasy stools
 Unusually small amount of weight gain or growth
 Intestinal blocking, especially in newborns
 Severe constipation
 Other:
 Infertility is common in both males and females, though more frequently
in males
 Salty tasting skin and sweat.

5. Here is a more
visual
representation
of many of the
problems
caused by
Cystic Fibrosis.

6. Diagnosis
There are many ways for a doctor to diagnose CF. Now all
infants are screened for it in the United States, but as this was
only recently implemented older children or adults suffering
from the previously mentioned symptoms may be
recommended to be screened as well.
Methods of Diagnosis:
 Blood from infants can be tested for high levels of the chemical
IRT.
 A “sweat test” can be performed testing a sample of sweat.
Abnormally high levels of salt can indicate that the person has
CF.
 Genetic tests can also show CF by doctors observing the
specific malfunctions on the gene actually responsible for the
disorder.

7. Cellular Causes of Cystic
Fibrosis
Cystic Fibrosis is caused by a mutation of the gene that contains the
instructions to create cystic fibrosis transmembrane conductance
regulator (CFTR). This mutation causes the sequence of amino acids
in this protein to be assembled wrong, which in turn causes the entire
protein not to fold correctly. When the incorrectly folded protein
enters the Endoplasmic Reticulum (ER), the ER recognizes the
incorrect folding of the protein and marks it to be degraded. Thus, the
protein never even reaches the Golgi, let alone the cell membrane
where it belonged. Since the protein was intended to be a chloride ion
channel through the plasma membranes of cells that line major
passageways in the body (such as airways and intestines) , the
sodium-chloride concentrations are thrown off throughout the
person’s body. This ultimately causes the normally thin mucus within
one’s body to turn thick and sticky, and therefore immovable by cilia
that line the passageways.

8. Cellular Causes lead to
Symptoms
 Thick mucus build up occurs
due to cell malfunctioning
from out of balance sodium
and chloride concentrations.
The mucus builds up in lungs
and other passageways
because it can not be moved
by cilia. As the mucus builds
up it traps bacteria which
cause chronic lung infections
to develop. The built-up
mucus also blocks airways
and intestines creating
difficulty breathing and
severe constipation.

9. Treatment of Cystic
Fibrosis
 There is no cure for cystic fibrosis, or treatment to deal
specifically with the disease itself, however there are many
ways to treat its various symptoms. These are generally
prescribed by a CF specialist, who can be found at most
hospitals. Treatments vary heavily depending on the
patient, but most treatments can fall under the categories of
Respiratory Treatments and Digestive Treatments. There
are also treatments to help with male infertility and other
less common problems associated with CF.

10. Treatments for Respiratory
Problems
 Treatments for issues concerning the lungs:
 Chest Physical Therapy (CPT): repeated pounding of the
chest and back to help dislodge mucus. This can be assisted
by various machines and technologies.
 Exercises: aerobic exercise acts similarly to CPT in dislodging
mucus, and is highly suggested for all of its health benefits.
 Medicines: This includes antibiotics to fight and prevent lung
infections, anti-inflammatory medicines to reduce swelling in
airways, bronchodilators which open up breathing
passageways, and mucus thinners which can help, but not
solve, the original problem of thick and sticky mucus.
Oxygen therapy or even a lung transplant could become
necessary for patients who develop advanced lung disease.

11. Treatments for Digestive
Problems
 Nutritional Therapy: in which a specific plan is designed
for each patient to make sure they get enough nutrition,
since CF can prevent people from absorbing and digesting
food correctly. These nutrition plans often include:
 Oral pancreatic enzymes
 Various vitamins
 High-Calories shakes
 Salt supplements or high salt diets to replace the excess salt
lost in the sweat of a person with CF.
 For severe cases sometimes nighttime feeding tubes are
inserted into patients to provide extra nutrition.
 Mucus thinning medicines may also be used to aid with the build
up of mucus in the digestive tract.
 Surgery may become necessary to remove intestinal blockages.
 Doctors may also prescribe further highly specified medicines for
individuals with Cystic Fibrosis.

12. Living with CF (prognosis)
 The average life expectancy for people with cystic fibrosis in the
United States, as of 2008, was 37.4 years. (Much improved from
only fifty years ago when a newborn with CF wasn’t expected
to live more than six months.)
 The difficulty in breathing and all of the daily treatments that
must be performed (exercises, chest physical therapy, medicine
taking, etc.) makes it far harder for people with CF to live their
lives than for other people to live.
 Quality of life varies hugely between individuals with CF. Some
people must sleep with a nutrition tube each night or rely on
oxygen therapy, while some only suffer bad coughs for the
majority of their day.
 Specific quality of life depends on specific protein mutations
and environmental and developmental factors.

13. Bibliography
"CFTR: The Gene Associated with Cystic Fibrosis." Gene Gateway-
Exploring Genes and Genetic Disorders. The U.S. Department of
Energy Biological and Environmental Research, 12 Sept. 2003. Web. 23
Oct. 2012. <http://www.ornl.gov/sci/techresources/
Human_Genome/posters/chromosome/cftr.shtml>.
"Cystic Fibrosis." PubMed Health. Ed. Neil K. Kaneshiro, MD. A.D.A.M. Inc.,
16 May 2012. Web. 22 Oct. 2012. <http:/
www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/>.
"Cystic Fibrosis." Wikipedia. Wikimedia Foundation, 23 Oct. 2012. Web. 23 Oct.
2012. <http://en.wikipedia.org/wiki/Cystic_fibrosis>.
"How Is Cystic Fibrosis Treated?" National Heart, Lung, and Blood Institute.
National Institutes of Health, 01 June 2011. Web. 23 Oct. 2012. <http://
www.nhlbi.nih.gov/health/health-topics/topics/cf/treatment.html>.
Staff, Mayo Clinic. "Cystic Fibrosis." Mayo Clinic. Mayo
Foundation for Medical Education and Research, 13 June
2012. Web. 23 Oct. 2012. <http://www.mayoclinic.com/ health/cystic-
fibrosis/DS00287>.

14. Images Bibliography
A drawing portraying how mucus builds up on outside of CF
cells. Digital image. Genetic Science Learning Center. The
University of Utah, 2012. Web. 23 Oct. 2012. <http://
learn.genetics.utah.edu/content/disorders/whataregd/cf/
Burnett, C. Autorecessive. Digital image. Wikipedia. Wikimedia
Foundation, 25 Mar. 2007. Web. 23 Oct. 2012. <http://
en.wikipedia.org/w/index.php?
title=File:Autorecessive.svg&page=1>.
Reuters, Thomson. Health Problems with Cystic Fibrosis. Digital
image. Drugs.com. Drug Information Online, 2012. Web. 23
Oct. 2012. <http://www.drugs.com/cg/cystic-fibrosis-in-
children.html>.