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Cystic Fibrosis


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Background information:



Cystic Fibrosis is autosomal recessive inheritance. This gene is known as CFTR and is found on chromosome seven. One in three thousand three hundred Caucasions will have this disease. Cystic Fibrosis is a disease that is caused by defective chloride transport that leads to high levels of mucus in the lungs and pancreas, high sweat chloride levels, and other digestive and respiratory problems. Cystic Fibrosis is one of the most common genetic diseases. Cystic Fibrosis was recognized as a specific identity by Dorothy Anderson of New York in 1938. The condition is characterized by early onset of sever intestinal malabsorption, failure to thrive and recurrent chest infections and pneumonia which, if untreated, leads to death from malnutrition and respiratory failure in infancy or early childhood. Because of the improved treatment with anitbiotics and better pancreatic enzyme replacement therapy, the average survival has steadily improved to around 37 years.














Symptoms:
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  • stools, pale or clay colored, foul smelling, or stools that float
  • recurrent pneumonia
  • chronic cough, possibly with blood streaking
  • wheezing
  • bronchitis
  • chronic sinusitis
  • asthma
  • nasal polyps
  • weight loss, failure to thrive in infants, abdominal swelling
  • excessive salt in sweat, dehydration
  • failure of newborn to pass stool
  • abdominal pain, flatulence
  • fatigue
  • enlarged fingertips
  • changes in color and amount of sputum
  • late onset of puberty
  • intestinal obstruction
  • inflammation of the pancreas
  • cirrhosis
  • infertility
  • repeated infections
  • thick, viscous mucus secretions in the lungs
Cystic Fibrosis symptoms does not follow the same pattern in all patients but affects different people in different ways and to varying degrees. The basic problem is the same, an abnormality in the glands, which produce or secrete sweat and mucus. Sweat cools the body; mucus lubricates the respiratory, digestive, and reproductive systems, and prevents tissues from drying out, protecting them from infection.








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Statistics:
  • 3,200 Caucasion are born with Cystic Fibrosis
  • One in 15,00 African American are born with Cystic Fibrosis
  • One in 31,000 Asian Americans are born with Cystic Fibrosis
  • About 2,500 babies are born each year with Cysic Fibrosis
  • More than ten million Americanscarry the disease but don't know it




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Treatment
There is no cure for Cystic Fibrosis, although there are different medications that can help to live a somewhat, normal life. There are different types of antibiotics and drugs that can help to clear the mucus found in the lungs. When the drugs begin to fail a lung
transplant can extend a patients life. Since Cystic Fibrosis is a genetic disease, the only way to prevent or cure it would be with gene therapy at an early age. Ideally, gene therapy could repair or replace the defective gene. Another option for treatment would be to give a person with Cystic Fibrosis the active form of the protein product that is scarce or missing.

As of now, neither gene therapy nor any other kind of treatment exists for the basic causes of Cystic Fibrosis, although several drug-based approaches are being investigated. In the meantime, the best that doctors can do is to ease the symptoms of Cystic Fibrosis or slow the progress of the disease so the patient's quality of life is improved. This is achieved by antibiotic therapy combined with treatments to clear the thick mucus from the lungs. The therapy is tailored to the needs of each patient. For patients whose disease is very advanced, lung transplantation may be an option.

Cystic Fibrosis was one always fatal in childhood. Better treatment methods developed over the past 20 years have increased the average lifespan of Cystic Fibrosis patients to nearly 30 years. These treatment approaches are detailed more fully below.

Cystic Fibrosis treatments for lung problems:
A major focus of Cystic Fibrosis treatment is the obstructed breathing that causes frequent lung infections. Physical therapy, exercise, and medications are used to reduce the mucus blockage of the lung's airways.
Chest Therapy consists of bronchial, or postural, drainage, which is done by placing the patient in a position that allows drainage of the mucus from the lungs. At the same time, the chest or back is clapped (percussed) and vibrated to dislodge the mucus and help it move out of the airways. This process is repeated over different parts of the chest and back to loosen the mucus in different areas of each lung. This procedure has to be done for children by family members but older patients can learn to do it by themselves. Mechanical aids that help chest physical therapy are available commercially. Exercise treatment also helps to loosen the mucus, stimulate coughing to clear the mucus, and improve the patient's overall physical condition.
Medications used to help breathing are often aerosolized (misted) and can be inhaled. These medicines include bronchodilators (which widen the breathing tubes), muclotics (which thin the mucus), and decongestants (which reduce swelling of the membranes of the breathing tubes). A recent advance, approved by the Food and Drug Administration, is an inhaled aerosolized enzyme treatment that thins the mucus by digesting the cellular material trapped in it. Antibiotics to fight lung infections also are used and may be taken orally or in aerosol form, or by injection into a vein.

Cystic Fibrosis treatments for digestive problems
The digestive problems in Cystic Fibrosis are less serious and more easily managed than those in the lungs. A well-balanced, high-caloric diet, low in fat and high in protein, and pancreatic enzymes(which help digestion) are often prescribed. Supplements of vitamins A., D, E, and K, are given to ensure good nutrition Enemas and muclotic agents are used as treatments for intestinal obstructions.



Did you know.......
  • More than 1,000 different mutations in the CFTR gene have been identifited in Cystic Fibrosis patients. The most common mutation is a 3-base deletion in DNA sequence, causing an absence of a single amino acid in the proteain product.
  • The Cystic Fibrosis Foundation recieved help from many celebrities like; Tom Cruise, Nicole Kidman, Ellen DeGeneres, David Letterman, Betsey Johnson, Katie Couric, Billy Joel, Larry King and many more.
  • The life expectancy for someone that has Cystic Fibrosis is only forty years.
  • Albert Einstein, one of the greatest scientists, died of internal bleeding and was thought to have suffered from Cystic Fibrosis.




Sources:
http://www.cystic-l.org/assets/images/CFS-CureCysticFibrosisMagnet.jpg\
https://www.msu.edu/~luckie/About_MSUCF_files/cystic-fibrosis.jpg
http://www.bcscience.com/bc9/images/0_quiz_insert_gene.jpg
www.cff.org/ - 63k
www.cff.org/AboutCF/ - 72k
www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_what.html - 16k
http://www.cystic-fibrosis-symptom.com/treatments.htm
http://www.cafamily.org.uk/Direct/c93.html

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