Cystic Fibrosis
65 Roses
What is Cystic Fibrosis?
Cystic Fibrosis Gene
CFTR Gene
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.
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
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.
European Caucasians, Ashkenazi Jews - 1 in 29
Hispanic Americans - 1 in 46
African Americans - 1 in 61
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
Treatment and Outlook
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.