An autosomal recessive genetic disorder common among white folk. The gene was discovered to rest on chromasome 7 in 1989.

Cystic Fibrosis affects the exocrine glands, which are in charge of secreting sweat and mucus. In sufferers, the glands produce a thick, sticky mucus. The gene also codes for a flawed protein that affects movement of the chloride ion through the walls of the lungs and the gut. This means that a layer of sticky, concentrated snot accumulates in the lungs, which impairs breating and aggravates respiratory infections.

In the stomach, the mucus interferes with digestive enzymes, blocking normal absorption of nutrients. This means that a person with CF can become malnourished, even with a proper diet. britannica.com says that greasy, foul-smelling stools are the first warning sign of CF, although I'd think that they'd also just indicate too many chili dogs, so don't jump to conclusions.

The definitive test for CF is the sweat test, in which a subject's sweat is measured for abnormally high salt content, another symptom of CF.

Treatment for CF means taking enzyme supplements, and a diet high in calories, protein, and fat. Sounds like the lush life, but you've also got to get some strenuous exercise in your day so you can loosen up those mountains of snot in your lungs. Antibiotics are also needed to fight respiratory infection. If you suffer from CF and you follow these steps, you have a good chance of surviving it past childhood.

Major props to britannica.com for providing almost all the hard data in this writeup. Thanks also to alex.tan for the autosomal and chlorine channel info.

As the above writeup mentions, CF is a recessive genetic disorder most commonly found in caucasians. One in 28 whites carries a copy of the gene responsible for the disease.

The way the disease actually works, according to WebMD, is by affecting the way water and salt are moved into and out of mucus-producing cells. The upshot is that all systems with a large number of mucus-producing cells are affected, including the respiratory, digestive, exocrine and reproductive systems.

The majority of cases are diagnosed in the first year of life. The most common first symptom noticed in babies is intestinal blockage. Other symptoms that are often noticed early are fatty, foul-smelling stools, failure to grow, and a persistent cough or lung problems. After symptoms are noticed, the sweat test is used to confirm CF. Particularly mild cases may not be noticed until later in life, when symptoms gradually worsen. Some cases are not diagnosed until early adulthood, although this is rare.

Because the body has so many systems which produce mucus, the disease affects several different functions:

Digestion: Because CF patients have extraordinary amounts of mucus in their digestive tracts, nutrient absorption is impaired. Malnourishment can result, even at above-average levels of caloric intake.

Reproduction: One of the more common results of CF is infertility. Even sufferers with very mild forms of CF may find themselves sterile, even those who exhibit no other symptoms.

Respiration: Over time, mucus buildup in the lungs destroys healthy tissue. CF patients generally are more susceptible to respiratory infections, and take a longer time to heal. As time goes on, the lungs eventually become severely damaged. Inefficient respiration also leads to enlargement of the right side of the heart, called cor pulmonale. The two most common causes of death in CF patients are heart failure and lung infections.

Many CF patients don't make it to adulthood. The average life expectancy is only 30 years, although new treatments are starting to increase that number. Treatments include antibiotics to prevent respiratory infections, nutritional and enzyme supplements, and percussion to loosen mucus in the lungs. In some cases, lung transplants or heart-lung transplants may be used to extend the lifespan. There are also several gene-therapy trials currently underway to try to cure or lessen the impact of CF.

Sources:

www.webmd.com

www.cff.org

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