Cystic Fibrosis

65 Roses

What is Cystic Fibrosis?

Cystic Fibrosis is a life-threatening ,genetic disease that causes persistent lung infections and progressively limits the ability to breathe.
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Oxygen Mask. Digital image. The Salt Room Villages. The Salt Room Villages, 2012. Web. 9 Dec. 2015.

Cystic Fibrosis Gene

CFTR Gene

People with cystic fibrosis inherit a defective gene on chromosome 7 called Cystic Fibrosis Trans-membrane Conductance Regulator or CFTR for short.


The protein produced by this gene normally helps salt move in and out of cells. If it doesn't work properly the movement is blocked and an abnormally thick sticky mucus is produced on the outside of the cells.

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Chromosome 7. Digital image. Cystic Fibrosis. Genetic Science Learning Center, 2015. Web. 9 Dec. 2015.

Symptoms

Respiratory

  • A persistent cough that produces thick (sputum) mucus

  • Wheezing

  • Breathlessness

  • Repeated lung infections

  • Inflamed nasal passages or a stuffy nose

Digestive

  • Foul-smelling, greasy stools

  • Poor weight gain and growth

  • Intestinal blockage, particularly in newborns (meconium ileus)

  • Severe constipation

Complications

  • Bowel problems, such as gallstones, intestinal blockage, and rectal prolapse

  • Coughing up blood

  • Chronic respiratory failure

  • Diabetes

  • Infertility

  • Liver disease or liver failure

  • Malnutrition

  • Nasal polyps and sinusitis

  • Osteoporosis and arthritis

  • Pneumonia that keeps coming back

  • Rights-sided heart failure

Inheritance

Cystic fibrosis is an autosomal recessive mutation. That means both copies of the gene in each cell have mutations. Each parent had an autosomal recessive condition, and each of them carried one copy of the mutated gene. Carriers typically do not show signs and symptoms of the condition.
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Cystic Fibrosis Chart. Digital image. Cystic Fibrosis Canada. Cystic Fibrosis Canada, 2015. Web. 9 Dec. 2015.

Carriers

Testing

Carrier testing is available through a simple blood test. There are around 1,000 mutations that have been found to cause CF. A screening can be done for the most common of the 1,000 mutations. If there is no history of anyone having CF in the family then the chance of being a carrier depends on your ancestry.


  1. European Caucasians, Ashkenazi Jews - 1 in 29

  2. Hispanic Americans - 1 in 46

  3. African Americans - 1 in 61

  4. Asian Americans - 1 in 90


If there is a history of CF in the family, the risk of having it may be higher regardless of the ancestry.


If the test comes back positive there is no impact it has on your health. The only possibility is that their child may have CF. If both of them are carriers each pregnancy will have a 1 in 4 chance of being affected with cystic fibrosis. Before the newborn leaves the hospital a blood sample is taken and tested for several different conditions, including Cystic Fibrosis

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Newborn Screening. Digital image. Newborn Screening for CF. Cystic Fibrosis Foundation, n.d. Web. 9 Dec. 2015.

Treatment and Outlook

There is currently no cure for CF, but specialized medical care and aggressive drug treatments and therapies can lengthen and improve the quality of life for those with the disease, along with proper nutrition and exercise. In the 1950’s children with Cf were not expected to live enough to attend grade school. Today many people can expect to live into their 40’s, 50’s and beyond.
Sauger, Jeffrey. A Brighter Outlook for Cystic Fibrosis Patients. Digital image. Time Essentials. New York Times, n.d. Web. 9 Dec. 2015.
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Survival Age. Digital image. Cystic Fibrosis Foundation. Cystic Fibrosis Foundation, n.d. Web. 9 Dec. 2015.

Shocking Facts

  • About 2,500 babies are born with cystic fibrosis in the U.S. each year.
  • More than 10 million Americans carry the cystic fibrosis gene but don't know it.
  • Cystic Fibrosis and Tay Sachs are tied as the most fatal Jewish genetic diseases.
  • People with Cystic Fibrosis can't be close together because they harbor a dangerous bacteria that can harm people with CF or compromised immune systems.
  • People with Cystic Fibrosis excrete too much salt causing their skin to be salty.
  • Roses became the unofficial symbol because 'Cystic Fibrosis' rhymed with 65 roses.

More Information

Sources

Genetic Science Learning Center. "Cystic Fibrosis." Learn.Genetics 9 December 2015


"Cystic Fibrosis." Symptoms. Mayo Clinic, 7 July 2015. Web. 09 Dec. 2015.


Borowitz, D. "Cystic Fibrosis: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, 14 May 2014. Web. 09 Dec. 2015.


"FAQ: Carrier Testing for Cystic Fibrosis." UCSF Medical Center. UCSF Medical Center, 2015. Web. 09 Dec. 2015.


"Cystic Fibrosis." Genetics Home Reference. US National Library of Medicine, Aug. 2012. Web. 09 Dec. 2015.


Balch, William E., and Jeffery Kelly. "Cystic Fibrosis Research." The Scripps Research Institute. The Scripps Research Institute, 2015. Web. 09 Dec. 2015.