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CYSTIC FIBROSIS
BY: TERESA KRASZEWSKI
BACKGROUND AND HISTORY
• Late 16th century babies who had “salty skin” when
kissed were likely to die
• 1938 Dr. Dorothy Andersen produced first description
of cystic fibrosis in medical literature
• 6 month life expectancy
• Only thought as mucus disorder
• 1959 sweat test
• Larger than just mucus disorder
• 1989 discovery of CFTR gene
• Made treatment easier
• Life expectancy grew
CAUSE AND INHERITANCE
• Autosomal recessive
• Most common in whites
• Defect in cysitc fibrosis transmembrane regulator (CFTR)
gene on chromosome 11
• Makes protein that controls movement of salt and water in cells
• Most common mutation F508
• 2/3
• Bodily secretions thick/sticky
• Blocks tubes, ducts, passageways
• Life threatening
• 20-30 yrs
• Small % 40-50 yrs
SYMPTOMS
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Salty skin
Clubbed fingers/toes
Diabetes
Respiratory:
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Persistent cough (phlegm)
Wheezing
Breathlessness
Repeated lung infections
Sinus infections/nasal polyps
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Foul-smelling stool
Poor weight gain
Intestinal blockage
Severe constipation
Rectal prolapse (end of the large
intestine protrudes outside anus)
• Digestive:
DIAGNOSIS
• 70% diagnosed by age 2
• Screening newborns required in all 50 states
• Blood sample from heel
• Checks for high levels of immunoreactive trypsinogen (released
by the pancreas)
• Sweat chloride test
• Sweat-producing chemical applied skin
• Collected sweat tested to see if higher chloride concentration
than normal
• DNA samples from blood/saliva
• Checks for defects on gene
DIAGNOSIS (CONTINUED)
• People who weren’t screened:
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X-rays, CT scans and MRI (show damage to lungs/intestines)
Lung function tests
Sputum culture (analyzed for bacteria)
Blood tests (health of your pancreas/liver)
Tested for diabetes regularly (ages 10+)
TREATMENT
• No cure
• Chest physical therapy
• Drugs:
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Antibiotics (prevent lung infections)
Mucus-thinning drugs
Bronchodilators (relax muscles around bronchial tubes)
Oral pancreatic enzymes (help digestive tract absorb nutrients)
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Nasal polyp removal
Oxygen therapy (prevent high blood pressure in lungs)
Endoscopy (suction mucus out of airways)
Lung transplant (controversial)
Feeding tube
Bowel surgery
• Surgery:
SUMMARY
Autosomal recessive inherited disease
Defect in CFTR gene
Life threatening
Now diagnosed by screening newborns
Symptoms mostly affect respiratory and digestive
systems
• Treatments available for symptoms but no cure
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WORKS CITED
"CYSTIC FIBROSIS." Cystic Fibrosis. N.p., n.d. Web. 1 Dec. 2013.
<http://learn.genetics.utah.edu/content/disorders/whataregd/cf/>.
"Cystic Fibrosis Since 1938." (thoracic). N.p., n.d. Web. 1 Dec. 2013.
<http://www.atsjournals.org/doi/full/10.1164/rccm.200505-840OE#.UqUaeSe5pmg>.
"Cystic Fibrosis Symptoms, Treatment, Life Expectancy, Genes, Testing - MedicineNet." MedicineNet. N.p., n.d. Web. 1
Dec. 2013. <http://www.medicinenet.com/cystic_fibrosis/article.htm>.
"Cystic Fibrosis: Overview." Cystic Fibrosis. N.p., n.d. Web. 1 Dec. 2013.
<http://www.nationaljewish.org/healthinfo/conditions/cysticfibrosis/>.
"January/February 2014." Discover Magazine. N.p., n.d. Web. 1 Dec. 2013.
<http://discovermagazine.com/2013/september/14-doorway-to-a-cure>.
staff, Mayo. "Definition." Mayo Clinic. Mayo Foundation for Medical Education and Research, 13 June 2012. Web. 1
Dec. 2013. <http://www.mayoclinic.com/health/cystic-fibrosis/DS00287>.