Cystic Fibrosis

By: Kyleigh James, Biology 125, B2

What are other names for Cystic Fibrosis?

Other names for Cystic Fibrosis are . . .

- Cystic Fibrosis of the Pancreas

-Fibrocystic disease of the Pancreas

-Mucoviscidosis

-Mucoviscidosis of the Pancreas

-Pancreas Fibrocystic disease

-Pancreatic cystic fibrosis


Link : https://www.nhlbi.nih.gov/health/health-topics/topics/cf/names

What chromosome does it affect ?

Cystic Fibrosis affects chromosome 7.

What causes Cystic Fibrosis?

"A defect in the CFTR ( Cystic Fibrosis trans membrane conductance regulator) causes Cystic Fibrosis. This gene makes a protein that controls the movement of salt and water in and out of your body's cells . In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat." ( NIH 1).

Are there prenatal tests for this disorder?

Genetic counselors can give an educated guess on whether or not the baby will have Cystic Fibrosis. There are no tests to determine this.

What are the symptoms?

Pain in the abdomen

Burning in the chest

Chronic cough containing phlegm or blood

Diarrhea

Delayed development

Delayed puberty

Slow growth

Fatigue

Nasal problems

Extreme weight loss or gain

What population is affected?

10 million people in the US and about 1 out of 35 people are carriers of this disease.

Can anyone be a candidate for the disorder?

Both or your parents must have the defective gene in order for you to get this disease. You may be a carrier but unless you get both defective chromosome 7's you will not have this disorder.

How is it inherited? (Is it sex-linked, recessive, and/or dominant?)

Cystic Fibrosis is a recessive gene in which a person may have a defective chromosome 7 which means that if he/she has a child with someone else who has the same chromosome 7. Once the child is developing they have a 50/50 shot of having cystic fibrosis because of the parents.

What kind of medical assistance will the affected child need?

Cystic Fibrosis is a disease where mucus builds up in several of the body's organs and can cause severe problems. Many people have lung disease and breathing problems off because of this disease. Depending on the severity of the disorder people may have to go in to get their mucus "drained" from lungs and other organs.

Will further assistance be needed, as the child grows older?

Yes, this is a life long disease. Sure somethings may help for short term like antibiotics but you will need assistance through out your whole life.

What is the long-term outlook for the child?

A life full of precautions but it doesn't mean that you have to live any less of a life. People with Cystic Fibrosis will always have to deal with this but it is manageable.

Are there any treatments or cures?

No cure has been made/found for this disease but there are several treatments. Some of which include loosening and removing mucus in lungs as well as preventing infections from setting in your lungs.

Could this disorder have been prevented?

There is no prevention for this disease. It is either going to happen or it's not.

Can this individual have children in the future?

Yes, you will be able to have children in the future. There is a slight chance of infertility in males if the disease gets bad enough but it is very unlikely. The only thing with having a child is that they may contract this disease as well.

Will those children be affected?

They may be affected or they may not be. It depends on if the spouse of the original effected person also carries the disease. If both parent carry it the child is extremly likely to have the disease.

Is there a cure/new treatment coming soon?

Klaydeco and Vertex are a combination therapy of Lumacaftor and Ivacaftor. These treatments were put into "action" on July 5th, 2015 which would mean it is the newest treatment for Cystic Fibrosis there has been released.


http://cysticfibrosisnewstoday.com/2015/01/29/undeniable-hope-recent-cf-breakthroughs-show-cure-can-found/

Cystic Fibrosis is a horrendous disease. A close friends cousin has it and he describes it as "Feeling like your drowning but never having touched a drop of water." Could you even imagine?