Cystic Fibrosis

By: Jacob Rottinghaus

What it is?

Cystic Fibrosis is a mutation of the CFTR gene.

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.

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



A decreased ability to exercise

Repeated lung infections

Inflamed nasal passages or a stuffy nose

Digestive System Symtoms

Foul-smelling, greasy stools
Poor weight gain and growth
Intestinal blockage, particularly in newborns

Severe constipation

Who's affected?

Cystic Fibrosis is very common disease in white or Caucasian people, especially in the United States.

  • 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?

Any newborn that s born with a defected chromosome 7 called CFTR.

How is the disease inherited?

Cystic Fibrosis is a autosomal recessive disorder that is solely from the mother or the father. Since it is either from the mother or the father this meas it is a sex-link disease.

What kind of medical assistance will be needed for the child?

Once the child is diagnosed with cystic fibrosis doctors and the family will get together and make a care plan for the child. The treatment plan made by the doctors and health professionals will help the child live longer and healthier. The best care for children with cystic fibrosis can be found at cystic fibrosis centers.

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?

As the child gets older the regular doctor visits will need to happen more often because the diseases will get worse as the child grows up.

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.

The child's life will become tougher and together as they grow. The older they get the harder to take care of the disease is. The treatments to maintain their bodies help will become very frequent. In the 1950s people with cystic fibrosis did not live to see elementary school, but now people on average live to be in their 30s to 40s before the disease kills them.

What are the options? (treatments, cures)

There are treatments available to children with cystic fibrosis, but there are no cures to stopping the disease. The treatments available are airway clearances, to loosen and clear the thick mucus built up in the lungs. The air that is inhaled during the treatments contains medicines, such as antibiotics and enzyme supplement to support their vital nutrients.

Could this have been prevented?

This disease could not have been prevented because since either the mother or the father had the disease or was a carrier of the disease the child was going to have the disease. The only way to prevent it is for the parents to not have a child.

Can the Cystic Fibrosis person have kids?

Yes, the person with cystic fibrosis can have kids.

Will the persons offspring be affected?

Yes, if a person with cystic fibrosis has a child since the disease is sex-linked the child born will get the disease as well.

The status of the Research being done.

The status or how much this disease is spent being researched is pretty high because cystic fibrosis has its on foundation and the foundation brings in many new scientists to research and explore the disease.

Future Cures???

As of right now the scientists that are doing the cystic fibrosis research have not found any cure but they are working on newer and better treatments. A cure will probably not be found soon but, scientists believe they will be able to make people with the disease live longer with better therapies and treatments.