Cystic Fibrosis
By: Jacob Rottinghaus
What it is?
The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions in and out of the cell.
The mutation is a disruption to the channel.
The defective chromosome number 7 causes salt to stop flowing through cells causing mucus to builds around cells. And then the cells travels to the lungs and causes air way blockage.
Cystic Fibrosis Lungs
Cystic Fibrosis Logo
Charity for Cystic Fibrosis
Prenatal Testing
The blood of each parent is tested
If the mothers blood is tested and she has blood with 2 normal CF the baby will not have Cystic fib
If the mother is tested and she does have a CFTR mutation then the father will be tested
If the father has the mutation as well the baby has a 25% chance of having it as well
Respiratory System Symtoms
A persistent cough that contains thick spit or mucus
Wheezing
Breathlessnes
A decreased ability to exercise
Repeated lung infections
Inflamed nasal passages or a stuffy nose
Digestive System Symtoms
Poor weight gain and growth
Intestinal blockage, particularly in newborns
Severe constipation
Who's affected?
- 1 in 2,500 to 3,500 white newborns are affected by Cystic Fibrosis
Cystic Fibrosis is less common with different ethnic groups.
- 1 in 17,000 African Americans are affected
- 1 in 31,000 Asians are affected
Who can get Cystic Fibrosis?
How is the disease inherited?
What kind of medical assistance will be needed for the child?
Regular visits with doctors and different health officials will be required for the child to be sure they are still living a healthy life. Respiratory therapy or treatments will be necessary to keep the child's lungs healthy and make sure their bodies are getting the right amount of oxygen in the lungs.
Digestive therapy or treatment will also be necessary to maintain a heath digestive system in the child.
What further assistance will be needed as the child grows?
The child's lungs will become less healthy due to the mucus build up so more respiratory therapy will be necessary for the child to live a good life.
Thinking long term.
What are the options? (treatments, cures)
Could this have been prevented?
Can the Cystic Fibrosis person have kids?
Will the persons offspring be affected?
The status of the Research being done.
Future Cures???
References
1. http://embryo.asu.edu/pages/cystic-fibrosis
2. http://learn.genetics.utah.edu/content/disorders/singlegene/cf/
3. http://www.cff.org/AboutCF/Faqs/
4. http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/symptoms/con-20013731
5. http://ghr.nlm.nih.gov/condition/cystic-fibrosis
6. http://www.cff.org/treatments/
7. http://www.webmd.com/children/tc/cystic-fibrosis-treatment-overview