Cystic+Fibrosis

= = =**__Cystic Fibrosis__**= By Nina and Momo


 * What is Cystic Fibrosis?**

Cystic Fibrosis (CF) or Mucoviscidosis is a dangerous genetic disorder that causes severe lung damage and affects digestion. CF affects the movement of salt (Sodium Chloride) into and out of the cells that produce mucus, sweat, saliva, and digestive juices. The defective gene causes the secretions to become thick and sticky instead of thin and slippery. The secretions then begin to clog up the lungs, ducts, tubes, and passageways. The mucus clogs up the lungs, causing respiratory failure and breeding ground for bacteria to grow. This leads to repeated lung infections that can cause serious damage to the lungs. The secretions can also block areas in the pancreas so the digestive fluids can not travel to the small intestine, where they are needed to break down food. The intestines cannot absorb fats and proteins fully. The secretions also prevent the body from absorbing key vitamins.



//Representation of the CFTR structure.//


 * What Causes Cystic Fibrosis?**

Cystic Fibrosis is caused by a imperfection in the cystic fibrosis trans-membrane conductance regulator (CFTR) gene. This gene controls the movements of salt in and out of cells. In people with CF, this gene does not work correctly and therefore results in thick, sticky secretions in the respiratory and digestive regions and the reproductive system. It also causes increased salt content in the sweat. The gene is recessive and the offspring must receive two abnormal CFTR genes, one from each parent who carries the abnormal CFTR gene, in order to have the disorder. A child who only inherits the abnormal CFTR gene from one parent will not have CF, but will be a carrier of the gene and possibly pass on the gene to their own children. If both parents are carriers of the abnormal CFTR gene then the probability of the child having CF is 25% or 1/4. There is a 50% or 1/5 chance that the child will be a carrier of the disease. There is a 25% or 1/4 chance that the child will have a pair of normal CFTR genes and not having CF or being a carrier. Abnormal CFTR carriers usually have no symptoms of CF, live healthy lives, can have it without even knowing, and can pass on the abnormal gene to their children.


 * What are the Symptoms?**

The most common signs and symptoms in children and young adults include:
 * Coughing or wheezing that brings up phlegm (flem)
 * Salty taste on the skin from the increased salt content in sweat
 * Greasy stools
 * Intestinal blockage, called meconium ileus, in a newborn
 * Delayed growth, in spite of a big appetite
 * Infertility
 * Dehydration
 * Frequent lung infections such as bronchitis and pneumonia



//Clubbed or rounded fingers from the lack of oxygen getting out of the fingertips.//

CF can be followed by:
 * - Sinusitis- When the sinuses, which produce mucus and keep the lining of the nose moist, become swollen.
 * - Bronchiectasis- A lung disease where the bronchial tubes flabby and form pockets from the excess mucus. This becomes a place for bacteria to grow. This leads to lung infections and can lead to serious illnesses.
 * - Pneumothorax- collapsed lung
 * - Clubbing or enlargement of the fingertips or toes.
 * - Nasal Polyps- growths in the nose
 * - Pancreatitis- inflammation in the pancreas
 * - Rectal Prolapse
 * - Intestinal blockage
 * - Liver disease



//A normal lung compared to a collapsed lung.//


 * History**

Cystic Fibrosis became a generalized disease in 1943 and was called "muscouiscidosis." In Northern Europe folktales there are stories where the mother licks the forehead of their children to see if they have the disease. This makes sense because people who have CF have more salt in their sweat. In 1940's, physicians found that ductual systems were affected by the disease and were being clogged by secretions. In 1946, after studying families with CF, they doctors said that the disease was caused by autosomal recessive gene. That means that the disease can happen on any chromosome and it requires two copies of the gene. In 1989 the gene was isolated and the mutation was located by Lap-Chee Tsui and John R. Riordan of a hospital in Toronto and Francis S. Collins. They named the protein where the mutation happens, cystic fibrosis trans-membrane regulator (CFTR).


 * Who Does it Affect?**

About 30,000 people in the United States have Cystic Fibrosis. It is estimated that 1 in every 3,000 babies born in the United States with CF. It affects both males and females. It is most common in Caucasian groups with Northern European ancestry. These people have a one in 29 chance of carrying the mutated gene. It is also common in Latinos, and Native Americans, especially the Pueblo and Zuni. CF is less common in African Americans, and Asian Americans.


 * Treatment and Prognosis**

Although there is no cure for CF, treatments have improved greatly over the years. Treatments for CF are focused on preventing infections in the lungs, thin the mucus and remove it or reduce it in the lungs, help the air flow, maintain sufficient nutrition, and prevent blockages in the intestines. The average lifespan of a person with CF is 30 years. The improved medications have made it possible for patients to live longer. The finding in 1989 started the major progress in Cystic Fibrosis research. Researchers have been trying to find a way to deliver the copies of the normal genetic makeup to the affected cells that are around the airways. They have tried using modified viruses, fat capsules (liposomes) and synthetic vectors. Other scientists have been trying to change the protein that the cystic fibrosis gene produces. They believe that this may help normalize the movement of salt in and out of the cells.

Treatments for CF include:
 * Antibiotics- to fight of the infections
 * Physical Therapy- drain or loosen the mucus
 * Mucus-thinning drugs
 * Bronchodilators- use of medications that keep the bronchial tubes open
 * Oral Enzymes and additional nutrition
 * Lung Transplant- replace the lungs with a healthy lung
 * Medications- Pain relievers such as Ibuprofen can slow down the progress of CF in young children
 * Oxygen Therapy- keeps the level of oxygen normal

CF is passed on by the parents, either one or both. For the child to get the disorder, it is needed that that both parents must pass on the CF gene. The child can become a carrier of CF, get rid of the mutated gene, or get the disorder.



//The inheritance of Cystic Fibrosis with two carrier parents. CF is a autosomal recessive gene.//


 * What are the Effects of CF?**

People with CF will have problems with their respiration, digestive, and reproductive systems, but they can carry on their life. They must maintain a healthy diet, avoid tobacco smoke, exercise frequently, drink plenty of fluids, wash their hands to reduce infections, and do chest physical therapy everyday. They must also have annual flu and other immunizations and take their prescribed medications. Most patients must do daily chest clapping or percussion to drain the mucus from the lungs. Patients with CF must do plenty of exercise to loosen the the mucus in the lungs and strengthen the heart and lungs. CF diagnosed patients must be careful not to get infections because it is easier to get complications that can be fatal. CF patients may have many lung infections, be infertile, have stunted growth, lots of coughing, and mutations on the fingers and toes.


 * Discussion Questions**

1. How can cystic fibrosis effect daily life? 2. How are the folktales from Northern Europe connected with CF? 3. Is CF curable? If not, how can it be treated? 4. What occurred in 1989 that changed the history of cystic fibrosis?


 * Work Cited**

"Cystic Fibrosis". __Mayoclinic.__ Updated: 2 March, 2006. Accessed: 14 May, 2007. http://www.mayoclinic.com/health/cystic-fibrosis/DS00287/DSECTION=1

"What is Cystic Fibrosis" __NHLBI__. Updated: December 2005. Accessed: 14 May 14, 2007. http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_what.html

"Birth Defects & Genetics: Cystic Fibrosis". __March of Dimes__. Updated: March 2006. Accessed: 14 May, 2007. http://www.marchofdimes.com/pnhec/4439_1213.asp

"Cystic Fibrosis History". __Cystic-Fibrosis-Symptom__. Accessed: 15 May, 2007. http://www.cystic-fibrosis-symptoms.com/cystic_fibrosis_history.htm

"Prognosis of Cystic Fibrosis". __WrongDiagnosis__. Updated: 9 May, 2007. Accessed: 15 May, 2007. http://www.wrongdiagnosis.com/c/cf/prognosis.htm

"Cystic Fibrosis". __Prometheus__. Accessed: 15, May 2007 http://prometheus.mse.uiuc.edu/research/cysticFibrosis/cysf.html