Cystic Fibrosis

What is Cystic Fibrosis?
It is an inherited disease affecting the lungs and digestive system.
Mucous clogs the lungs, making it difficult to breath and leads to potential life-threatening infections.
•The disease keeps natural enzymes from helping the body break down food and absorbing the nutrients.
•The most common mutation occurs on the gene DeltaF508.
•People born with the disease typically live to their 30’s or 40’s which has increased significantly since research has been done.


Diagnosis:
•Most people are diagnosed by age two
•Roughly 1,000 new cases come about every year.



Inheritance:
•It is a recessive disease caused by mutation on chromosome 7.
•Heterozygous carriers of the gene with not show any affects. Two mutated genes have to be present for the Cystic Fibrosis to appear.
•Two unaffected parents that are carriers have a 25% chance of having an affected child.

Diagnosing
•Blood tests
•Sweat chloride test is common for determining if a person has cystic fibrosis. High salt level (salty tasting sweat)is a sign of the disease.
•Lung function tests

Symptoms (just a few)
•Slow growth
•May not have bowel movements in the first couple days of life
•Nausea and loss of appetite
•Weight loss
•Coughing/increasing mucous in lungs
•Nasal Congestion
•Sinus pain/pressure
Two people having the same mutation may have different symptoms because CF (Cystic Fibrosis) is influenced greatly by genetic factors.

Most kids are normal until they reach their adolescence or adulthood.
They are encouraged to participate in activities as normal until the disease catches up to them and they become disabled.

Population Genetics
About 1 in 2,500-3,500 newborn Caucasian Americans has this disease.
The genetic disorder can’t be prevented.
Some treatments can delay death including:
•Antibiotics
•Chest physical therapy
•Exercise
•Lung problems/possible transplant