Cystic Fibrosis

What's it all About?

What's it do?

The symptoms of Cystic Fibrosis include:

- A persistent cough that produces thick mucus

- Wheezing

- Difficulty breathing

- Common lung infections

The symptoms can get worse and become:

- Pancreatitis

- Liver disease

- Diabetes

- Gallstones

How is it Inherited?

Cystic Fibrosis is caused by a mutation on the CFTR gene that is located on chromosome 7. In our bodies, this gene opens up chloride channels that allow water and chloride ions to pass through, but a mutation on this gene causes those to become smaller and constricted. This prevents them from regulating the flow of water and those ions. Because of this, the lining passageways of the lungs, pancreas, and other organs start to produce thick mucus. This is an autosomal recessive disease where each parent is a carrier of it, but has no signs or symptoms of it.

When do Symptoms Occur? Can We Find out Sooner?

Symptoms can be seen as early as newborns by their sweat being salty. Symptoms show in early childhood in most cases, and get worse over the course of time. With genetic testing, we are able to tell if a child will have CF before birth, but we are unable to tell how sever the symptoms will get. Also, parents can be tested using their DNA material from a blood test or mouth scrape to see if they carry the mutated gene.

What Factors Affect how this Disorder is Expressed? Can the Environment be Altered?

CF is variable depending on specific mutations of the gene, gene penetration, genetic modifiers, and the environment. The environment of someone with Cystic Fibrosis should be one with no smoking or second hand smoking. Also the individual should exercise regularly and eat properly.

Are there Treatments?

Treatments of CF include:

- Medicines to thin mucus

- Chest physical therapy to help open it up

- Pulmonary rehab that includes diet and exercise

- Surgery to replace lungs or airway blockages

- Gene therapy to replace the defective ones with the proper ones

By: Kara Odham