Cystic Fibrosis

COPD

Cystic fibrosis (CF) occurs due to a genetic defect, and causes the body to produce thick, sticky mucus. People with CF often have difficulty breathing and are prone to lung infections. The disease also affects other parts of the body. There is no cure for Cystic Fibrosis. However, people with CF now live for longer periods.

Cystic fibrosis (CF) occurs due to a genetic defect. The affected gene produces a protein involved in transferring salt and water in and out of cells. The presence of the genetic defect makes the protein is less effective, leading to the production of overly sticky, very thick mucus. Individuals with Cystic Fibrosis inherited a defective gene from each of their parents. Many adults carry the defective gene and live with no symptoms of the disease. However, should they have a child with another carrier of the defective gene, that child may be born with Cystic Fibrosis.

Thickened mucus causes many lung infections in addition to regularly clogging the lungs, making breathing difficult. However, Cystic Fibrosis affects other parts of the body, including the pancreas. The pancreas, a gland that sits behind the stomach, produces digestive juices that help break down food, and hormones control blood sugar levels. Cystic Fibrosis causes clogging of the pancreas so that it no longer produces necessary food digesting enzymes. The body cannot absorb enough nutrition as a result. Other organs often affected by Cystic Fibrosis include the liver, intestines, and sinuses.

Most people have no idea they carry the defective gene that causes Cystic Fibrosis. The initial symptoms of Cystic Fibrosis in a child born to two carriers include notable salty tasting skin, often discovered when giving the baby a kiss, and no stool passed by a baby when first born.1 Other symptoms vary widely, and often do not show up until children are a bit older, although some have severe Cystic Fibrosis from birth.

Respiratory symptoms are most commonly associated with Cystic Fibrosis, and include2:

  • Thick, sticky mucus
  • Lung infections that thrive in the thick mucus
  • Frequent coughing
  • Bloody sputum
  • Lung infections caused by unusual germs
  • Frequent sinusitis
  • Nasal polyps
  • Frequent bronchitis and pneumonia
  • In advanced disease cases, pneumothorax and bronchiectasis

However, the disease also affects the pancreas, skeletal system, and reproductive system.

While there is no cure for Cystic Fibrosis, living for longer periods with the disease is now possible. A generation ago, most people with Cystic Fibrosis died in childhood or as a teenager. Two generations ago, most children with the disease never made it to kindergarten.

Dealing with the disease requires an individualized treatment plan. Most people with Cystic Fibrosis practice airway clearance, which consists of several techniques3:

  • Coughing
  • Huffing, or taking a breath in and exhaling as if trying to steam up a mirror or window
  • Chest Physical Therapy  
  • Postural Drainage & Percussion through assuming different positions that help mucus drain from different areas
  • Oscillating Positive Expiratory Pressure involving exhaling completely through a specific device that causes vibrations in the airways
  • High-frequency Chest Wall Oscillation, using vibrations to loosen mucus
  • Positive Expiratory Pressure (PEP)
  • Active Cycle of Breathing Techniques such as breathing control, thoracic expansion exercises, forced expiration technique, and autogenic drainage

Beyond airway clearance techniques, Cystic Fibrosis patients also often use inhaled medicines, and may take pancreatic enzyme supplements so that they can better absorb nutrients from food.

Sources:

http://www.cff.org/AboutCF/.

http://www.nlm.nih.gov/medlineplus/pancreaticdiseases.html.

http://www.nhlbi.nih.gov/health/health-topics/topics/cf/causes.html.

http://www.nhlbi.nih.gov/health/health-topics/topics/cf/signs.html.

http://www.cff.org/treatments/Therapies/Respiratory/AirwayClearance/.

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Glossary

alveolus air sac where gas exchange takes place.
angina chest pain.
aorta blood vessel that delivers oxygen-rich blood from the left ventricle to the body; it is the largest blood vessel in the body.
apex top portion of the upper lobes of the lungs.
atrium one of the two receiving chambers of the heart.
base bottom portion of lower lobes, located just above the diaphragm.
blood pressure pressure of blood against the walls of a blood vessel or heart chamber.
bronchiolitis inflammation that involves the bronchioles (small airways).
bronchoscopy the examination of the bronchi (the main airways of the lungs) using a flexible tube (bronchoscope). Bronchoscopy helps to evaluate and diagnose lung problems, assess blockages, obtain samples of tissue and/or fluid, and/or to help remove a foreign body.
bronchus large airways; lung divides into right and left bronchi.
cardiac output total amount of blood being pumped by the heart over a particular period of time.
catheter thin, flexible medical tube; one use is to insert it into a blood vessel to measure blood pressure.
constrict tighten; narrow.
cyanosis bluish color in the skin because of insufficient oxygen.
diaphragm primary muscle used for respiration, located just below the lung bases.
diastolic pressure lowest pressure to which blood pressure falls between contractions of the ventricles.
dilate relax; expand.
dyspnea sensation of difficulty in breathing.
edema swelling due to the buildup of fluid.
endothelial cells the delicate lining, only one cell thick, of the organs of circulation.
expiration exhaling; giving off carbon dioxide.
heartbeat one complete contraction of the heart.
hyperactive describes a situation in which a body tissue is especially likely to have an exaggerated reaction to a particular situation.
hypertension abnormally high blood pressure.
hypotension abnormally low blood pressure.
inspiration inhaling; taking in oxygen.
lobectomy removal of an entire lobe of the lung.
lung volume the amount of air the lungs hold.
mean blood pressure average blood pressure, taking account of the rise and fall that occurs with each heartbeat. It is often estimated by multiplying the diastolic pressure by two, adding the systolic pressure, and then dividing this sum by three.
palpitation sensation of rapid heartbeats.
perfusion flow.
pleura membrane that covers the outside of the lung.
pneumonectomy removal of an entire lung.
pulmonary artery blood vessel delivering oxygen-poor blood from the right ventricle to the lungs.
pulmonary hypertension abnormally high blood pressure in the arteries of the lungs.
smooth muscle muscle that performs automatic tasks, such as constricting blood vessels.
spirogram record of the amounts of air being moved in and out of the lungs.
syncope fainting; temporary loss of consciousness.
systemic relating to a process that affects the body generally; in this instance, the way in which blood is supplied through the aorta to all body organs except the lungs.
systolic pressure the highest pressure to which blood pressure rises with the contraction of the ventricles.
vasodilator agent that widens blood vessels.
ventilation movement of air (gases) in and out of the lungs.
ventricle one of the two pumping chambers of the heart; right ventricle receives oxygen-poor blood from the right atrium and pumps it to the lungs through the pulmonary artery; left ventricle receives oxygen-rich blood from the left atrium and pumps it to the body through the aorta.