Cystic Fibrosis, also known as CF, is a progressive, lifelong, hereditary disorder that affects the exocrine glands. It causes the production of abnormally thick mucus, that leads to the blockage of the pancreatic ducts, intestines, and bronchi often resulting in respiratory infection.
A defect in the CFTR gene causes cystic fibrosis (CF). The CFTR gene makes a protein that controls the movement of salt and water in and out of your body's cells. For people who have this defect, the gene produces a protein that does not work well. The malfunctioning protein causes thick, sticky mucus and very salty sweat.
There are many different types of defect that can appear in the CFTR gene. The type of defect in the CFTR gene may affect the severity of CF. Other genes also may play a role in the severity of the disease not just CFTR.
Every person inherits two CFTR genes -- one from each parent. If a child inherits a faulty CFTR gene from each parent, that child will have Cystic Fibrosis.
Children who inherit one faulty CFTR gene and one normal CFTR gene are "CF carriers." CF carriers usually have no symptoms of CF and live normal lives. However, they can pass the faulty CFTR gene to their children.
- Decreased lung function
- Shortness of breath
- Thick mucus
- Persistent cough producing thick sputum
- Weight loss
- Very salty tasting skin
Symptoms of CF in the Digestive System:
- Poor growth and slow weight gain
- Frequent, greasy, bulky stools or difficult bowel movements
- Cystic Fibrosis related Diabetes (CFRD)
CFRD can develop as people get older. People with CFRD may need to drink more, use the bathroom more, feel very tired, lose weight, or have trouble gaining weight. Other people with CFRD may have no symptoms.
CF symptoms in other parts of the body:
- Nasal polyps- fleshy growths inside the nose. Can lead to post nasal drips or mucus running down the back of the throat, some of this possibly ending up in the lungs.
- Sinusitis- Inflammation or swelling in the sinus cavity. May result from thick, sticky mucus blocking the sinuses. This blockage may lead to sinus infections.
- Cirrhosis of the liver- Thick bile can cause the tubes called bile ducts in the liver to become blocked. Leading to irritation in the liver, which can then lead to scarring. The scarring is known as cirrhosis, an advanced stage of liver disease. Cirrhosis makes it harder for blood to travel through the liver, making it harder for the liver to work properly.
- Infertility in men- A man with CF can make sperm. The tubes through which the sperm need to pass may not have formed or may be clogged with mucus. Intercourse is normal, however a man with CF may deliver little or no sperm.
- Infertility in women- Thick sticky mucus in a woman’s reproductive system may make it difficult for sperm to travel to the uterus. Making fertilization of a woman’s eggs difficult.
- Salt loss- The normal CFTR protein reabsorbs the chloride of the salt in sweat before it reaches the skin surface. In people with CF, the faulty CFTR protein is not reabsorbing the chloride. So they usually have much higher sweat chloride levels, and therefore have more salt in their sweat.
Tests and Diagnosis
Diagnosis testing includes:
- Infant Screening- In the screening test, a blood sample is checked for higher than normal levels of a chemical (immunoreactive trypsinogen, or IRT) released by the pancreas.
- Sweat test- A sweat-producing chemical is applied to a small area of skin. The collected sweat is then tested to see if it's saltier than normal.
- Genetic testing- DNA samples from blood or saliva can be checked for specific defects on the gene responsible for cystic fibrosis.
Testing after a diagnosis is made includes:
- Imaging tests- Damage to your lungs or intestines can be monitored with X-rays, CT scans and MRI.
- Lung function tests- These tests measure the size of your lungs, how much air you can breathe in and out, how fast you can breathe in and out, and how well your lungs deliver oxygen to your blood.
- Sputum culture- Your sputum (spit) is analyzed for bacteria.
- Organ function tests- Blood tests can measure the health of your pancreas and liver. Children with cystic fibrosis should be regularly tested for diabetes after age 10.
There is no cure for Cystic Fibrosis, however there are treatments set in place to ease symptoms, improve the quality of life, reduce the risk of complications, and help increase the average life expectancy of people with CF.
Goals of treatment:
- Preventing and controlling lung infections
- Loosening and removing mucus from the lungs
- Preventing and treating intestinal blockage
- Providing adequate nutrition
Types of treatment include medications, chest physical therapy, pulmonary rehabilitation, surgery and other procedures.
- Antibiotics- to treat and prevent lung infections
- Mucus-thinning drugs- to help you cough up the mucus, which improves lung function
- Bronchodilators- to help keep your airways open by relaxing the muscles around your bronchial tubes
- Oral pancreatic enzymes- to help your digestive tract absorb nutrients
Chest physical therapy:
Chest physical therapy helps loosen mucus and is usually done from one to four times a day.
- Chest clapper- a hand-held device that mimics the effect of cupped hands clapping over the ribs
- Inflatable vest- a device worn around the chest that vibrates at high frequency
- Breathing devices- usually a tube or mask through which you exhale while performing breathing exercises
Pulmonary rehabilitation is usually done on an outpatient basis and may include:
- Exercise training
- Nutritional counseling
- Energy-conserving techniques
- Breathing strategies
- Psychological counseling or group support or both
Surgical and other procedures:
- Nasal polyp removal- A doctor may recommend surgery to remove nasal polyps that obstruct breathing.
- Oxygen therapy- If a patients blood-oxygen level declines, the doctor may recommend to occasionally breathe pure oxygen to prevent high blood pressure in the lungs (pulmonary hypertension).
- Endoscopy and lavage- Mucus may be suctioned from obstructed airways through an endoscope.
- Lung transplant- If a patient has severe breathing problems, life-threatening lung complications or increasing resistance to antibiotics used to treat lung infections, a lung transplantation may be an option. Because both lungs are affected by cystic fibrosis, both need to be replaced. Lung transplants for people with cystic fibrosis are controversial because studies indicate the procedure is associated with many complications, and may not prolong life or enhance quality of life.
- Feeding tube- Cystic fibrosis interferes with digestion, so someone with CF can not absorb nutrients from food very well. A doctor may suggest using a feeding tube to deliver extra nutrition while the patient sleeps. This tube may be threaded through the nose to the stomach or surgically implanted into the abdomen.
- Bowel surgery- If a blockage develops in the bowel, a CF patient may need surgery to remove it. Intussusception, where a section of bowel has folded in on itself, also may require surgical repair.
- Airway vest and system
- Implanted devices
- Genetic testing technology
- In 2002 the average predicted age of survival for someone who has CF was 31 years old.
- In 2012 the average predicted age of survival for someone who has CF increased to 41 years old.
- As of 2015 advances in science, medicine, and the care of people with CF are continuing to be made.
Statistics of People Living with CF
In the United States (as of May 2014):
- About 1,000 new cases of CF are diagnosed each year.
- More than 75 percent of people with CF are
diagnosed by age 2.
- Most children are diagnosed before age 4, if not age 2.
- Nearly half of the CF population is age 18 or older.
- According to the Cystic Fibrosis Foundation in 2005, CF affects 30,000 people.
How to Support Children with CF
- Work with the child's service providers
- Work with the child's school
- Talk with the child's teacher often
- Get more information
- Have the child wear a Medic Alert bracelet
- Include the child in all parts of daily life
- Encourage the child to cough
- Encourage the child to take their medicine on time, every time
- Encourage the child to exercise every day
- Help the child to eat a high-calorie, high-salt diet
- Encourage the child to drink a lot of fluids
- Be careful about exposing the child to germs and harmful bacteria
- Teach the child to wash or use sanitizing gel on their hands after coughing or sneezing and after blowing his or her nose.
- Make sure the child has a trusted adult who they can talk to
How CF Affects a Child's Learning
Cystic fibrosis does not typically cause problems with a students learning ability. Difficulties breathing or having a poor appetite and weight loss can make a difference in how the child feels about learning or being in social situations. If there are problems with learning, typically accommodations in the regular classroom and in regular physical education classes will be enough. Sometimes students with cystic fibrosis receive special-education services. Services from physical therapy and school nurses can be vital for the student to receive appropriate schooling.
Family and Community Resources
Cystic Fibrosis Foundation- National Headquarters, 6931 Arlington Road, 2nd floor
Bethesda, Maryland 20814. Local Pone: (301) 951-4422. Toll Free Hotline: (800) FIGHT CF (344-4823). Email: firstname.lastname@example.org Website: http://www.cff.org/LivingWithCF/
CF Living Community Resources: Genentech- Corporate Headquarters, South San Francisco, CA. Phone: (650) 225-1000 or (800) 626-3553 Website: https://www.cfliving.com/register?intc=cf-livingpatient:resources|Welcome%20to%20CF%20Living
Cystic Life- 3915 E. Broadway Blvd., Ste. 400 Tucson, Arizona 85711. Contact: Amanda Sharpe, Marketing Communications Director, email@example.com or Ronnie Sharpe, Founder, firstname.lastname@example.org Website: http://cysticlife.org/
Cystic Fibrosis Research Inc.: Cystic Fibrosis Community Support- 1731 Embarcadero Rd. Suite 210, Palo Alto, CA 94303. Phone: 650-404-9975. Website: http://www.cfri.org/cfsupport.shtml
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