CF Flashcards
what is CF
● Cystic fibrosis (CF) is a life threatening genetic disease. It affects the cells that produce mucus, sweat, digestive liquids.
● Normally these fluids are thin and slippery but in CF patients they are found to be thick and sticky.
● This causes often people with CF lung infections and progressively limits their ability to breathe
CFTR
● CF affects the body’s ability to move salt and water in and out of cells, causing the lungs and pancreas to secrete thick mucus. This is caused by the mutatuation of the CFTR gene. Making the CFTR protein dysfunctional and unable to move chloride to the cell
surface. This causes the mucus to become thick and sticky.
● Instead of acting as a lubricant, the mucus plugs up tubes, ducts and passageways, especially in the lungs and pancreas.
● This resulting in progressive damage to the respiratory system and chronic digestive system problems.
genetic disease
● Cystic fibrosis is mostly known for being a genetic disease affecting the lungs. But in fact the name “ cystic fibrosis” comes from the effects of the diseases on the pancreas.
● CF is an autosomal recessive disorder involving the CFTR gene.
● Autosomal recessive: means its a condition that appears only in individuals who have received two copies of an autosomal gene.
● CF develops when there’s a mutation in the CFTR gene. Being an autosomal recessive disorder, there must be two mutated CFTR genes for a baby to inherit it. ( a person carrying the gene is considered a “carrier”)
diagnosis of CF
● The decision to test a child for cystic fibrosis may be triggered by concerns about recurring gastrointestinal, respiratory symptoms, or salty sweat..
● Families with a history of CF may wish to have all children tested, especially if one child has already manifested the disease.
● There are three ways when it comes to diagnosing someone with cystic fibrosis. 1. Newborn screening 2. Sweat test 3. Genetic or carrier test.
new born screening
● Newborn screening for cystic fibrosis is done in the first few days after birth.
● A blood test from the baby is done to check the levels of a chemical made by the pancreas called immunoreactive trypsinogen (IRT)
● IRT levels tend to be high with people who have CF. When high IRT levels are detected in the blood, the results of the newborn screening are said to be positive.
● A positive newborn screening identifies that a baby may have CF and that further testing through a sweat test will be required.
sweat test
● the sweat test is considered the gold standard for diagnosing cystic fibrosis. If done correctly the results of a sweat test would not change, even if the CF patient is sick.
● The sweat test can be done on an individual of any age.
● The sweat test measures the amount of chloride in the sweat. By using a chemical encouraging sweat, a little electrical stimulation is applied to a small area of the arm or leg of a baby. The sweat is then collected and analyzed.
● Process takes about 1-2 hours
genetic of carrier test
● Genetic testing can be used to tell if a person carries a mutation of the CFTR gene. The test looks at a person’s DNA ( sample taken from the mouth)
● This determines if a child inherit one copy of the (CFTR) gene mutation from a parent. If both parents were to have a positive result, they would have a ¼
chances of having a child having CF
● A positive carrier test result for CF means that a person has one mutation of the CFTR gene. A positive result is more than 99 percent accurate. A negative carrier test result is not as accurate.
● If your test is negative for a mutation of the CFTR gene, there is still a small chance you could carry one CFTR mutation.
stats
- Most common fatal genetic disease affecting Canadian children
- Leads to death in majority of the population with CF
- 1 in every 3600 children are born with CF (Canada)
- 1 in 25 Canadians are carriers of the CF gene
- 1 in 4 chance to get CF if both parents are carriers
- Average lifespan is 37 years old
- More likely to be found in people of European descent
typical complications caused by CF
- Difficulty digesting fats and proteins
- Malnutrition and vitamin deficiencies
- Progressive lung damage from infections
- CF related diabetes
- Sinus infections
symptoms
- Persistent cough with thick mucus
- Wheezing and shortness of breath
- frequent chest infections (may include pneumonia)
- Bowel disturbances (ex: intestinal obstruction, oily stool)
- Weight loss/ failure to gain weight
- Salty tasting sweat
gene therapy
● Researchers hoped that by discovering the gene responsible for CF, a genetic approach to curing the disease will be developed. In gene therapy, a normal gene is inserted into cells to replace the defective
gene. In most gene therapy experiments, cells from an affected organ are removed from the body and infected with a virus that has been modified to carry the normal gene.
treatments
- There is no cure
- There is treatment for symptoms
- Severity of CF is generally based on lung condition
- Treatment plans are always in place for those with CF
- Daily care is the most important part of staying healthy
- Airway clearance, Inhaled Medicine, Enzymes, Fitness plan, CFTR Modulator
taking care of the lungs
- Active cycle of breathing techniques, Autogenic drainage
- Nebulizer
- Oscillating PEP using the Acapella, RC Cornet, Quake
- Oscillating PEP using Aerobika
- Oscillating PEP using the Flutter
- Positive Expiratory Pressure (PEP)
- Postural drainage and percussion (PD&P), aka Chest Physiotherapy
problems with CF in gym
- One student per class with CF (cross contamination)
- Regular water breaks, every 15-20 mins (electrolytes)
- Keep germs to a minimum
- Few limitations but high cardio is generally the best (bouncing)
- Water and cough station is recommended
- high altitude, contact, Germ dense areas
resources
In Manitoba there are two CF clinics. One is at Winnipeg Children’s Hospital and the other is at the Winnipeg Health Science Centre.
- cystic fibrosis foundation
- CF canada
