Pamela Hayek- Bio 4

Description- What is Cystic Fibrosis anyway?

Cystic fibrosis is an inherited disease that causes thick, sticky mucus to build up in the lungs and digestive tract. Cystic fibrosis (CF) is caused by a defective gene which tells the body to produce abnormally thick and sticky fluid, called mucus. This mucus builds up in the breathing passages of the lungs and the pancreas. This collection of sticky mucus results in life-threatening lung infections and digestion problems. The disease can possibly also affect the sweat glands and a man's reproductive system.

Mode of Inheritence- How do I get it?

Millions of Americans carry the defective CF gene, but do not have any symptoms. That's because a person with CF must inherit two defective CF genes -- one from each parent. An estimated 1 in 29 Caucasian Americans have the CF gene.

Symptoms- How can I tell if I might have CF?

Because there are more than 1,000 mutations of the CF gene, the symptons will be different from person to person. But in general they include:

No bowel movements in first 24 to 48 hours of life
Stools that are pale or clay colored, foul smelling, or that float
Infants may have salty-tasting skin
Recurrent respiratory infections, such as pneumonia or sinusitis
Coughing or wheezing
Weight loss, or failure to gain weight normally in childhood
Diarrhea
Delayed growth
Fatigue

Treatments- What can I do to prevent or treat it?

Unfortunatley, there is no cure or prevention yet to CF. But, there are many treatments that are available to people who have CF. An early diagnosis of CF and a comprehensive treatment plan can improve both the individual's survival chances and their quality of life. Specialty clinics for cystic fibrosis may be helpful and can be found in many communities.

Treatment includes:

Antibiotics for respiratory infections.

Pancreatic enzymes to replace those that are missing.

Vitamin supplements, especially vitamins A, D, E, and K.

Inhaled medicines to help open the airways.

DNAse enzyme replacement therapy to thin the mucus and makes it easier to cough up.

Pain relievers. Research has shown that the pain reliever ibuprofen may slow lung deterioration in some children with cystic fibrosis. The results were most dramatic in children ages 5 to 13.

Postural drainage and chest percussion.

Lung transplant may be considered in some cases

Diagnosis- So if I think I have CF, how can I make sure?

Most children are diagnosed with CF by their 2nd birthday. A small number, however, are not diagnosed until 18 years old or older. These individuals usually have a milder form of the disease. A blood test is available to help detect CF. The test looks for variations in a gene known to cause the disease. Other tests use to diagnose CF include:

Immunoreactive trypsinogen (IRT) test. This is a standard newborn screening test for CF. A high level of IRT suggests possible CF and requires further testing.
Sweat chloride test. This is the standard diagnostic test for CF. A high salt level in the patient's sweat indicates the disease.
Fecal fat test
Upper GI and small bowel series
Measurement of pancreatic function

Prognosis and Life Expectancy- How long do I have to live?

Disease registries now show that 40% of patients with cystic fibrosis are over age 18. Today, the average life span for those with cystic fibrosis who live to adulthood is about 35 years, which is a huge increase over the last 30 years. Death is usually caused by lung complications.