Cystic Fibrosis

Bio 100 December 6th, 2018

What is Cystic Fibrosis? Who gets it? How common is it?

Cystic fibrosis is an inherited disorder that causes severe damage to the

lungs, digestive system and other organs in the body.

Although Cystic Fibrosis occurs in all races, it is most common among

people of Northern European ancestry. 75% of diagnosis take place
before the age of 2. The life expectancy is about
37 years old.

Occurs in 1 to 3,500 white newborns,

1 in 17,000 African Americans,

1 in 31,000 Asian Americans.

Signs and Symptoms
Higher than normal level of salt in the affected persons sweat.

Persistent cough that produces thick mucus, wheezing, breathlessness,

exercise intolerance, repeated lung infections, stuffy nose.

Foul-smelling greasy stools, poor weight and growth,

intestinal blockage (meconium ileus),
severe constipation.

Affects the lungs and digestive systems.

Cystic Fibrosis disrupts the normal function of epithelial cells.

Diagnosis
Newborn Screening - All States screen newborns for CF using a genetic
test or a blood test.
Sweat test - sweat is collected on a pad or paper and then analyzed for
high levels of salt in order to confirm the diagnosis of cystic fibrosis.
Chest & Sinus X-ray, lung function test, prenatal screening and carrier
testing.
Life expectancy is about 37 years, death is most
often caused by lung complications.
The history behind the disease
The disease is said to have emerged around 3,000 BC because of
migration of people, new genes, and new living conditions.

"Wehe dem Kind, das beim Kuß auf die Stirn salzig schmeckt, es ist
verhext und muss bald sterben" or "Woe to the child who
tastes salty from a kiss on the brow, for he is cursed
and soon must die"

Dorothy Hansine Andersen is most notable because she

was the first to recognize the disease and create a diagnosis
test. Many others have written about deaths and cases of
the disease but did not recognize it as Cystic
What causes the disease?
Cystic Fibrosis is caused by a mutation that causes the deletion of 3
nucleotides that results in the loss of the amino acid phenylalanine on the
7th chromosome. The product of this is a defective protein that is crucial
to controlling water balance in cells. When water balance is abnormal in
your glands such as your lungs, pancreas, etc., it secretes a thick mucus
making it hard to breath, and also causes problems in your digestive
system.
The Science behind the disease
Cystic Fibrosis is an autosomal recessive mutation meaning in order to
show signs and symptoms you must inherit 2 defective genes from your
parents. Approximately 1 in every 25 people with European decent is a
carrier but shows no symptoms.
Cystic Fibrosis Treatments
Medications: such as anti-inflammatories to
reduce swelling of various affected organ
systems, decongestants to avoid mucus build up,
various inhalants to relax breathing tubes,
antibiotics to treat and prevent opportunistic
infections, and various pancreatic enzymes that
the affected individual may be unable to produce
on their own.
Treatments (continued)
Because of the complexity of organ systems affected by the disorder,
medication regimens are also very complex, meticulous and must be
administered in specific and time sensitive manners
Physical Therapy: Chest physical therapy is a common
treatment to loosen mucus in lungs.
Vest Therapy: use of weighted vests to improve functions of
muscles used in breathing
Treatments (Continued)
Surgeries:

-Lung Transplants

-Feeding Tube Insertions

-Bowel Surgery

-Endoscopy (Mucus Drainage)

 Cystic Fibrosis and Gene Therapy
With the emergence of new gene editing
proteins such as CRISPR Cas9, there is a
possibility upon our horizon that Cystic
Fibrosis and many other genetic disorders
may be able to be cured and eradicated from
the human genome.

With many discoveries and advances in

biotechnology many scientists have an
optimistic outlook on the future of
biomedicine, but with limited knowledge and
understanding of the nature of DNA, we are
only scratching the surface.
Interesting facts
The disease is nicknamed 65 roses because a child who had it couldn’t
pronounce it

One of the most fatal Jewish Genetic Disorders

2 people who have the disease can’t be together because of the risk of
cross contamination

As of 2017 there were more adults with C.F. then there were kids
Extra credit information
Scientist recently found a new cell which they named Ionocyte. Ionocytes
play a huge role in keeping the lungs clear. They discovered that the
CFTR gene is very active in the ionocytes, thus pinpointing the problem.
This discovery can lead to new therapies and treatments for patients with
Cystic Fibrosis.
Citations
https://www.nationaljewish.org/conditions/cystic-fibrosis-cf/history, Cystic Fibrosis: History. 12 Nov 2018. Jerry A. Nick, MD. 1 April 2012.

https://ghr.nlm.nih.gov/gene/CFTR, CFTR Gene. 14 Nov 2018. N/A. Jan 2008.

https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700, Cystic Fibrosis. 14 Nov 2018. Mayo Clinic Staff. 13

Oct 2016.

https://www.ndsu.edu/pubweb/~mcclean/plsc431/students98/senn.htm, Cystic Fibrosis and Gene Therapy. 18 Nov 2018. Jennifer Senn. 1998.

http://anthropology.msu.edu/anp204-us16/2016/07/15/w2-reflection-cystic-fibrosis-in-caucasians-4/ W2 Reflection: Cystic Fibrosis in Caucasians. 19

Nov 2018. Dalton Pecar. 15 July 2016.

https://cfmedicine.nlm.nih.gov/physicians/biography_8.html Biography Dr. Dorothy Hansine Andersen. 21 Nov 2018. Changing the Face of Medicine.
14 Oct 2003.

https://www.emilysentourage.org/top-5-things-you-probably-dont-know-about-cystic-fibrosis/ Top 5 Things You (Probably) Don’t Know About Cystic

Fibrosis. 21 Nov 2018. Emily’s Entourage. 29 Oct 2013.