cystic fibrosis a defect in a gene called the cystic fibrosis trans-membrane conductance regulator...
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Cystic Fibrosis
A defect in a gene called the cystic fibrosis trans-
membrane conductance regulator gene.
Symptoms -Respiratory signs and
symptoms The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause:
• Persistent cough• Wheezing• Repeated lung infections• Repeated sinus infections -Digestive signs and
symptoms The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these digestive enzymes, your intestines can't fully absorb the nutrients in the food you eat. This can cause:
• Foul-smelling, greasy stools• Poor weight gain and growth• Distended abdomen from
constipation• Intestinal blockage,
particularly in newborns -When to see a doctor
Talk to your doctor if your child:
• Isn't growing properly• Has a productive cough• Has repeated lung or sinus
infections• Has frequent fatty, bad-
smelling stools• Seek immediate medical
care if your child has difficulty breathing.
Who It Affects• auto-somal recessive genetic
disorder clinically characterized by chronic lung disease and pancreatic insufficiency.
• Median survival is 25 years, with an increasing number of patients surviving into their 30's.
• affects about one in 2,500 persons of European ancestry.
• It is less frequent among black and Hispanic Americans and is rare in Asians.
• One in 25 persons of European ancestry is a carrier, having one normal and one abnormal cystic fibrosis gene.
Cause of Cystic Fibrosis• An inherited condition,
cystic fibrosis affects the cells that produce mucus, sweat and digestive juices.
• Normally, these secretions are thin and slippery, but in cystic fibrosis, a defective gene causes the secretions to become thick and sticky.
• Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the pancreas and lungs
Genetics
• The cause of cystic fibrosis is genetic. The trait is recessive, so both parents need to carry the gene in order for a child to get it.
When It Is Diagnosed
• Diagnosis is sometimes delayed because symptoms may be mild and there is a failure to recognize them, however, newborn screening tests are now being performed in most states which leads to an improved survival rate.
How It Is Diagnosed• Many tests are performed to check for cystic fibrosis
including:– Newborn Screening Test: blood is taken and checked
for a component that is found in patients with cystic fibrosis.
– Sweat Test: a sweat producing chemical is applied to the skin to see if the patient sweats more than normal.
– Genetic Testing: blood or saliva samples are taken to check for gene mutations.
– Sputum Tests: a sample of mucus (from the lungs) is tested for the germs found in it.
– Lung Function Tests: these tests measure the size of your lungs, how fast you can breath in and out, and how well your lungs deliver oxygen to your blood.
Normal chest x ray
Cystic fibrosis x ray
Treatment• Treatment is different for
everyone but usually involves a combination of medicines and home treatment. Home treatments include getting rid of mucus, eating healthy foods, and excercising to help prevent infections and complications.
• no cure for cystic fibrosis.
Prevention• Cystic Fibrosis is a genetic disorder that cannot be
prevented. But people who have cystic fibrosis can help prevent more serious health problems such as lung infections by:
• Keeping immunizations current• Children who have cystic fibrosis should have all the
recommended immunizations in addition to pneumococcal shots
• Not smoking and avoiding secondhand smoke• Using airway clearance techniques, such as postrual
drainage and chest percussion• Eating nutricious foods• Having regular checkups and frequent tests, and
following their treatment plan • Seeking care from a cystic fibrosis specialty treatment
center, if possible
Support Groups• The Cystic Fibrosis Foundation
says: “Your donation will support research to find new treatments that will give kids a fighting chance.”
• The Boomer Esiason Foundation is a dynamic partnership of leaders in the medical and business communities joining with a committed core of volunteers to heighten awareness, education and the quality of life for those affected by cystic fibrosis, while providing financial support to research aimed at finding a cure.
Local Support• Greater Illinois Chapter --
Peoria Office 4507 North Sterling AvenueSuite 210Peoria, IL 61615 p: (309) 682-9240 Email: [email protected]: Associate Executive Director: Ms. Kellie Fleeman
“Volunteers are the key to our success, and we encourage you to get involved! Whether you join a committee and help get sponsors for an event, recruit companies to put together walk teams or volunteer time in our office, you help us achieve our mission—curing and controlling cystic fibrosis. Take a moment to see what a difference you can make by supporting events throughout the year. Together, we can continue adding tomorrows every day to the lives of people with CF.”
References• http://www.bing.com/health/article/mayo-MADS00287/Cystic-fibrosis?q=cy
stic+fibrosis+diagnosis&qpvt=cystic+fibrosis+diagnosis#tests-and-diagnosis
• http://www.lungusa.org/assets/documents/publications/solddc-chapters/cf.pdf
• http://www.mayoclinic.com/health/cystic-fibrosis/DS00287 • http://www.cfmedicine.com/history/topics/X-rays.htm • http://www.genome.gov/10001755