Cystic fibrosis is a genetic disease that affects the lungs and digestive system. It is caused by a defective gene that produces a thick, sticky mucus in the lungs and pancreas. Symptoms include persistent coughing, wheezing, shortness of breath, lung infections, and salty-tasting skin. There is no cure, but treatments aim to clear mucus from the lungs and aid digestion. Life expectancy has increased to around 37 years on average with advances in care and new therapies targeting the underlying genetic cause.

1. CYSTIC
FIBROSIS
BY
ASLAM MATANIA
FACULTY OF MEDICINE
GROUP-3

2. WHAT IS CYSTIC
FIBROSIS?
It is a chronic disease passed down
through families that affects the
respiratory and digestive systems.
Mucous

3. CAUSES
Both parents pass on a defective gene called, cystic
fibrosis transmembrane conductance regulator
(CFTR). This gene produces a protein that normally
helps salt move in and out of the cells. In cystic
fibrosis, the protein doesn’t work correctly and the
movement is blocked producing a thick, sticky mucous
is on the outside of the cell and and very salty sweat.

4. .
If both parents are
carriers, there is a
25% chance of
inheriting the
gene, 50% chance
of having a copy
and being a
carrier, and a 25%
of not having or
carrying the gene.
In order to
inherit CF, one
must inherit
both copies of
the defective
CFTR gene from
their parents.

5. SYMPTOMS
• Persistent coughing (at times with phlegm)
• Wheezing
• Increased shortness of breath
• Respiratory illnesses (pneumonia or bronchitis)
• Loss of appetite or weight loss
• Salty-tasting skin
• Frequent lung infections
• Nasal congestion
• Repeated inflammation of the pancreas

6. DIAGNOSIS
• Immunoreactive trypsinogen test- doctors measure the
amount of trypsinogen (a protein) in the blood. High level of
this protein suggests possible CF and requires further testing.
• Sweat chloride test- standard diagnostic test for CF. Sweat is
collected from person's arm or leg and taken to laboratory to
be analyzed measuring amount of salt (sodium chloride) in
sweat. A high salt level in patient's sweat is sign of the
disease.
• Genetic Carrier Testing- used to tell if the person carries one
or more mutations of the CF gene and how many copies of
each mutation. Looks at person’s DNA (genetic material) from
cells that are gently scraped from inside the mouth or cells
from a blood sample

7. EFFECTS
• The lungs when mucus builds up and gets stuck in the
airways. This increases risk of infection caused by bacteria.
• The pancreas when mucous blocks ducts causing digestive
enzymes to not get into the intestines. Without enzymes,
intestines cant properly digest food.
• Sweat glands when too much salt is lost through sweat
disrupting the balance of minerals in your body.
• And many more in the intestines, liver, gallbladder and
reproductive organs.

8. TREATMENTS
• No cure for cystic fibrosis
• Cystic fibrosis specialty clinics for children and adults
• Chest physical therapy- the patient is repeatedly clapped on
the back to free up mucous in chest
• Inhaled antibiotics to kill the bacteria that cause lung
infections
• Gene therapy- healthy CFTR gene is inserted into the lung
cells of a patient to correct the defective gene
• Exercising two or three times each week
• Take enzymes everyday with meals to make sure food is
digested

9. PROGNOSIS
• Most children are fairly healthy until they reach adulthood, but
most are able to finish college or find employment
• Can attend school and are able to participate in majority of
activities
• Average life span for people who live to adulthood is about 37
years…depends on the severity of disease and parts of the
body involved
• Death most likely caused by lung complications

10. STATISTICS
• About 2,500 babies are born with CF in the U.S. each year
• More than 10 million Americans carry the CF gene but don't
know it
• 1 of every 3,600 Caucasian children is born with CF
• 1 of every 17,000 African Americans is born with CF
• 1 of every 90,000 Asian Americans is born with CF

11. Current ResearchCurrent Research
• Kalydeco- FDA approved in 2012, is the first drug
available that targets the underlying cause of CF.
• Hypertonic Saline is an inhaled therapy that
increases hydration of airway surface liquid with CF.
• The CF foundation is maintaining a robust pipeline
of potential therapies that target the disease from
every angle.

12. Board, A.D.A.M. Editorial. "Cystic Fibrosis." Cystic Fibrosis. U.S.
National Library of Medicine, 18 Nov. 0000. Web. 19 Oct. 2012.
<http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/>.
"What Is Cystic Fibrosis - CF Foundation." What Is Cystic Fibrosis - CF Foundation. N.p., n.d.
Web. 19 Oct. 2012. <http://www.cff.org/AboutCF/Testing/NewbornScreening/WhatisCF/>.
"KidsHealth." Cystic Fibrosis. N.p., n.d. Web. 19 Oct. 2012.
<http://kidshealth.org/parent/medical/lungs/cf.html>.
Genetic Science Learning Center. "Cystic Fibrosis." Learn.Genetics 19 October 2012
<http://learn.genetics.utah.edu/content/disorders/whataregd/cf/>
"Cystic Fibrosis Symptoms, Causes, Treatment - What Are Other Names for Cystic Fibrosis?
on MedicineNet." MedicineNet. N.p., n.d. Web. 19 Oct. 2012.
<http://www.medicinenet.com/cystic_fibrosis/page2.htm>.
References