Cystic Fibrosis

OVERVIEW:

An inherited disease, cystic fibrosis causes thick, sticky mucus to build up in the digestive tract and lungs. It is a common chronic lung disease in both young adults and children, and can also result in death.


CAUSES:

Cystic fibrosis (referred to as CF) is caused by a defect in the CFTR gene. This gene makes proteins that control salt and water movement both in and out of the cells. The protein does not work correctly in those who have CF, thereby causing thick, sticky mucus and very salty sweat.

Based on the aforementioned, CF is inherited. Each person inherits two CFTR genes (one from each parent). If a person inherits two faulty CFTR genes, he will have CF. On the other hand, if a person inherits one normal and one faulty CFTR gene, he will become a "CF carrier" who can pass on the incorrect CFTR gene on to his children.

If both parents have one normal and one faulty CFTR gene, their children have the following percentages:

-25% chance of inheriting two normal CFTR genes
-50% chance of inheriting one normal and one faulty CFTR gene (thus becoming a carrier)
-25% chance of inheriting two faulty CFTR genes, resulting in CF

SYMPTOMS:

-Viscous and thick secretions of mucus in the lungs
-Numerous and repeated infections
-Recurring pneumonia
-Wheezing
-Bronchitis
-Chronic sinusitis
-Asthma
-Nasal polyps
-Weight loss or abdominall swelling
-Excessive salt in sweat
-Dehydration
-Abdominal pain
-Fatigue
-Enlarged fingertips
-Changes in color and amount of sputum
-Failure to grow (newborns)
-Bulky and greasy stools (newborns)

TREATMENT:

As Cf is a genetic, inherited disease, gene therapy would be the only way to prevent or cure it. Through gene therapy the gene could be either repaired or replaced; however, at present, gene therapy does not exist, although severl drug-based treatments are being researched. Other options include giving a person with CF an active form of the protein in which is missing or a scarcity. This is done by utilizing antibiotic therapy to clear the thick mucus from the lungs. If CF is very advanced in a person, lung transplatation may be necessary.

The treatment of a person largely depends upon where CF is affecting them (either the lungs or digestive tract.)

When CF affects the lungs, it obstructs and causes lung infections. A combination of physical therapy, excercise, and medicines are used in order to reduce or clear the mucus from the lungs. Chest therapy is an option, which consists of bronchial drainage of the mucus from the lungs. It is repeated multiple times over different areas of the chest and lungs to loosen the blockages. Excercise treatment stimulates coughing to clear the mucus and allows for the loosening of it. Medications can be used through aerosolizing or inhaling, and include bronchodilators (widens the breathing tubes), mucolytics (this mucus), and decongestations (reduces swelling of membranes). An aerosolized enzyme that thins mucus by digesting trapped cellular material has been recently approved by the FDA. Lastly, another option is antibiotics; they can be taken orally, in aerosol form, or by injection.

When CF affects the digestive tract, the disease is less serious and more easily managed. Through a balanced, high caloric (low in fat, high in protein) diet, and certain pancreatic enzymes, a person can combat this form of CF. Vitamin supplements such as vitamins A, D, E, and K are encouraged to ensure good nutrition. Enemas and mucolytic agents can also be used as treatments for this version of CF.

RANDOM FACTS:

-One in 2,500 children is born with CF
-There is no way to prevent this disease other than examining family history.

SOURCES:

- www.google.com/health/ref/Cystic+fibrosis
- www.nhlbi.nih.gov/health/dci/diseases/cf/cf_causes.html
- cystic-fibrosis-symptom.com/symptoms.htm
- cystic-fibrosis-symptom.com/treatments.htm