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Cystic
Fibrosis


http://www.mayoclinic.com/images/image_popup/mcdc7_cystic_fibrosis.jpg
What is Cystic
fibrosis?
It is a chronic disease passed down
through families that affects the
respiratory and digestive systems.




                  Mucous
                           https://ufandshands.org/site
                           s/default/files/graphics/ima
                           ges/en/18135.jpg
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
                                                http://www.pharmqd.com/files/im

                                                agecache/thumb/cysticfibrosis_0
                                                .jpg
http://drugline.org/img/t
                                                                 erm/test-sweat-
                                                                 chloride-14862_2.jpg




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
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
                                                                     http://lea
is on the outside of the cell and and very salty sweat.              rn.geneti
                                                                     cs.utah.
                                                                     edu/cont
                                                                     ent/disor
                                                                     ders/wh
                                                                     ataregd/
                                                                     cf/image
                                                                     s/cfchro
                                                                     m.jpg




                                 http://learn.genetics.utah.edu/co
                                 ntent/disorders/whataregd/cf/ima
                                 ges/cfchannel.jpg
each child has
                                                         a 25 percent
                                                         chance of
                                                         inheriting two
                                                         normal genes;
                                                         a 50 percent
                                                         chance of
                                                         inheriting one
                                                         normal gene
                                                         and one faulty
                                                         gene; and a
                                                         25 percent
                                                         chance of
                                                         inheriting two
                                                         faulty genes.


http://images.medicinenet.com/images/Government/cystic
%20fibrosis.gif
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.
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
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




    http://img.emedtvdt.com/i1/emedtv_101613.jpg
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




     http://www.humanillnesses.com/original/images/hdc_0001_0001_0_img0072.jpg
Bibliography
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>.

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Cystic fibrosis

  • 2. What is Cystic fibrosis? It is a chronic disease passed down through families that affects the respiratory and digestive systems. Mucous https://ufandshands.org/site s/default/files/graphics/ima ges/en/18135.jpg
  • 3. 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 http://www.pharmqd.com/files/im   agecache/thumb/cysticfibrosis_0 .jpg
  • 4. http://drugline.org/img/t erm/test-sweat- chloride-14862_2.jpg 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
  • 5. 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 http://lea is on the outside of the cell and and very salty sweat. rn.geneti cs.utah. edu/cont ent/disor ders/wh ataregd/ cf/image s/cfchro m.jpg http://learn.genetics.utah.edu/co ntent/disorders/whataregd/cf/ima ges/cfchannel.jpg
  • 6. each child has a 25 percent chance of inheriting two normal genes; a 50 percent chance of inheriting one normal gene and one faulty gene; and a 25 percent chance of inheriting two faulty genes. http://images.medicinenet.com/images/Government/cystic %20fibrosis.gif
  • 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 http://img.emedtvdt.com/i1/emedtv_101613.jpg
  • 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 http://www.humanillnesses.com/original/images/hdc_0001_0001_0_img0072.jpg
  • 11. Bibliography 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>.