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Cystic Fibrosis
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History

Appeared first in about 3000 BC. Dorthy Hansine Anderson-first to fully describe cystic fibrosis in 1938. In 1988 the first mutation was discover by Francis Collins, Lap Chee Tsui and John R. Riordan.
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In 1989 Lap Chee led a team of

Symptoms

The most common symptoms are the ones listed below. Keep in mind symptoms may vary.

Salty tasting skin Persistent coughing, with phlegm 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 the disease.

CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator. This protein regulates the components of sweat, digestive fluids, and mucus.

The most common mutation is a deletion of three nucleotides that results in the loss of the amino acid phenylalanine.

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There are over 1500 other mutations that can cause CF.

Treatments

Clearing the Airways: Family members, friends, or therapists pound or clap the backs and chests of people with cystic fibrosis. This loosens and gets rid of mucus in the lungs, preventing lung infections and improving lung function.

Inhaled medications are often used because they reach the airways quickly. A mist is made from liquid medicines like pulmozyme, TOBI or Hypertonic saline and inhaled by a mouthpiece of mask. 2/28/13

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 are carriers of the defective CF gene a blood test can be used to detect carriers. If both parents, through the blood test, are identified as carriers 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 have the disease

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Bioethical Considerations

The idea of gene modification to fix mutated genes during pre-natal development has arisen. It is debated however because of the other difficulties it could cause. Abortion is another ethical question as some families, if aware their child will have cystic fibrosis, may worry about the quality of life or 2/28/13

More About

Today the median predicted age of survival is the mid-30s for a cystic fibrosis patient. This is huge compared to 1955, where children with CF were not expected to live past grade school. The life expectancy will continue to increase as new treatments 2/28/13 found. are

Bibliography

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

Cystic Fibrosis Foundation-Home. Cystic Fibrosis Foundation-Home. N.p.,n.d. Web. 27 Feb. 2013

Staff, Mayo Clinic. "Definition." Mayo Clinic. Mayo Foundation for Medical Education and Research, 13 June 2012. Web. 27 Feb. 2013.

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