Cystic Fibrosis

By: Clay Johnson

Cause of Cystic Fibrosis

Cystic Fibrosis is caused by a mutation in the CFTR (Cystic Fibrosis Trans membrane) gene.

Genes and Chromosomes affected by Cystic Fibrosis

Chromosome 7 is affected therefore, both parents can be carrier’s of it. In a mutation in one gene, gene Cystic Fibrosis Trans membrane Regulator, CFTR, causes Cystic Fibrosis. It gives directions to make CFTR protein. Normal cells have CFTR protein that act as a channel that allows cells to release chloride. In people with Cystic Fibrosis, the protein is faulty causing there to be an uneven salt balance and a sticky, thick mucus.

Are there any prenatal tests to check for Cystic Fibrosis?

Sadly, there are not. Children can only be checked for Cystic Fibrosis once they have been born during a New Born Screening.

Symptoms of Cystic Fibrosis

Cystic Fibrosis has many symptoms. Symptoms include a persistent cough with thick mucus, wheezing, breathlessness, a decreased ability to exercise, repeated lung infections, inflamed nasal passages, a stuffy nose, foul-smelling greasy stools, poor weight gain and growth, salty sweat, enlarged heart, intestinal blockage, and severe constipation.

How many people does Cystic Fibrosis affect?

Cystic Fibrosis affects many people. 30,000 Americans and 70,000 people around the world are affected by Cystic Fibrosis.

Who can be a candidate for Cystic Fibrosis?

Anyone with parents who have or carry Cystic Fibrosis are candidates to have the disease. Also, the disease is found primarily in people of Northern-European Descent.

How is Cystic Fibrosis inherited?

Cystic Fibrosis is inherited recessively. This means that two genes of the disease must be present in the parents for the child to be affected by Cystic Fibrosis.

What kind of medical assistance will the affected child need?

The child will need regular check ups to make sure the build up of mucus hasn't become too much for the child. Also, the child will need antibiotics to combat the build-up of mucus.

Will the child need further assistance as he grows older?

The only assistance the child will need as he grows older is stronger antibiotics to accommodate for him growing into an adult through an IV and an oxygen tank to help them breathe.

What is the long-term outlook for the child?

The long term outlook for the child is that he will live to his mid 30's.

Are there any treatments or cures?

There is no cure for Cystic Fibrosis. But treatments include Antibiotics to treat and keep lung infections from happening. Also, there are drugs that thin mucus to cough it up, Bronchodilators to keep airways open, and Oral Pancreatic Enzymes to help the digestive tract take in nutrients.

Can Cystic Fibrosis be prevented?

Cystic Fibrosis can not be prevented.

Can Cystic Fibrosis victims have children?

They can have children if they live long enough and choose to.

Will the children of victims be affected by Cystic Fibrosis?

If the both parents are carriers then there is a 50% chance that the child will be a carrier of the disease, 25% chance that the child will not have the disease, and a 25% chance that the child will have the disease. Also, if both parents have Cystic Fibrosis then the child will definitely have it. If only one parent has the disease then the child will not have the disease.

Current Development of Research for Cystic Fibrosis

There are no new drugs in development to treat Cystic Fibrosis or its symptoms. There is no new cure or treatment for Cystic Fibrosis coming soon.
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The picture above...

The picture above shows the symptoms and effects on the body of Cystic Fibrosis. Symptoms include fatty bowel movements, trouble digesting food, trouble breathing, and an enlarged heart.
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The picture above...

The picture above shows how a person with Cystic Fibrosis' airways get blocked.

Works Cited

Boyle, MP, MD. “Adult Cystic Fibrosis.” Journal of the American Medical Association. 2007 298:1787-1793. 17 June 2008.

The Genetics of Cystic Fibrosis. University of Virginia Health System. November 7, 2005.

"Cystic Fibrosis | Disease | Research | Office of Rare Diseases Research (ORDR-NCATS)."Cystic Fibrosis | Genetic and Rare Disease Information Center. Genetic and Rare Disease Information Center, n.d. Web. 01 May 2015.

"Cystic Fibrosis- Counsyl." Counsyl. Counsyl, 18 Oct. 2013. Web. 01 May 2015.

"Cystic Fibrosis." Genetics Home Reference. U.S. National Library of Medicine, Aug. 2012. Web. 01 May 2015.

"Cystic Fibrosis." Mayo Clinic-Treatments and Drugs. Mayo Clinic, 13 June 2012. Web. 01 May 2015.

"FAQs about Cystic Fibrosis." FAQs-Cystic Fibrosis. Cystic Fibrosis Foundation, 12 Mar. 2014. Web. 01 May 2015.