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Cystic Fibrosis

Maddy Foley

AllAbout…..

http://www.nytimes.com/interactive/health

Click this link and listen to “A

Life Lived for Today” audio.

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History

• Appeared first in about 3000BC.

•

Dorthy Hansine Anderson-firstto fully describe cystic fibrosisin 1938.

• In 1988 the first mutation wasdiscover by Francis Collins, LapChee Tsui and John R. Riordan.

• In 1989 La Chee led a team of 

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Symptoms

•  The most commonsymptoms are theones listed below.

Keep in mindsymptoms may vary.

• Salty tasting skin

• Persistentcoughing, withphlegm

•

Lung infections

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Cause• Cystic Fibrosis is an autosomal recessive gene meaning the

child must inherit 2 of the defective genes to have thedisease.

• CF is caused by a mutation in the gene for the protein

cystic fibrosis transmembrane conductance regulator. Thisprotein regulates the components of sweat, digestive fluids,and mucus.

•

 The most common mutation is a deletion of threenucleotides that results in the loss of the amino acidphenylalanine.

•  There are over 1500 other mutations that can cause CF.

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 Treatments

• “Clearing the Airways”: Familymembers, friends, or therapistspound or clap the backs and chestsof people with cystic fibrosis. Thisloosens and gets rid of mucus in the

lungs, preventing lung infections andimproving lung function.

• Inhaled medications are often usedbecause they reach the airwaysquickly. A mist is made from liquidmedicines like pulmozyme, TOBI orHypertonic saline and inhaled by a

mouthpiece of mask.

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Identification of the Disease• In order to identify the disease prior to the birth

of the child, genetic carrier testing is used.

 –

Since more then 10 million Americans arecarriers of the defective CF gene a blood testcan be used to detect carriers. If both parents,through the blood test, are identified ascarriers the probabilities are:

• 25% chance the child will cystic fibrosis

• 50% chance the child will be a carrier of the CF gene

• 25% chance the child will neither carry the gene nor havethe disease

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Bioethical Considerations

•  The idea of gene modificationto fix mutated genes duringpre-natal development hasarisen. It is debated howeverbecause of the other difficultiesit could cause.

• Abortion is another ethicalquestion as some families, if aware their child will havecystic fibrosis, may worry

about the quality of life or

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More About…

•  Today the median predicted ageof survival is the mid-30s for acystic fibrosis patient.

•  This is huge compared to 1955,where children with CF were notexpected to live past grade

school.•  The life expectancy will continue

to increase as new treatments

are found.

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Bibliography

• Board, A.D.A.M Editorial. Cystic Fibrosis. U.S. NationalLibrary of Medicine, 18 Jan. 0001. Web. 27 Feb. 2013.

• “Cystic Fibrosis Foundation-Home.” Cystic FibrosisFoundation-Home. N.p.,n.d. Web. 27 Feb. 2013

• Staff, Mayo Clinic. "Definition." Mayo Clinic. MayoFoundation for Medical Education and Research, 13 June

2012. Web. 27 Feb. 2013.