Cystic Fibrosis Awareness Month is an international event designed to raise awareness of cystic fibrosis and to share the stories of people who are battling this dangerous condition. In this article, we’ll share 10 facts about cystic fibrosis to help you learn more about this condition.
1. Cystic fibrosis is caused by a genetic mutation
Cystic Fibrosis (CF) occurs when there is a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene is responsible for creating a protein that regulates how salt and water move into and out of cells.
The mutation of the CFTR gene primarily affects the cells that produce mucus, sweat, and digestive juices. Normally, these cells produce fluids that are thin and slippery. When a person has CF, they begin to produce fluids that are thick and sticky.
Instead of lubricating the body, the thicker fluids will begin to block the passageways, ducts, and tubes in certain organs. This is particularly damaging to the respiratory and digestive systems.
The genetic mutation that causes CF is inherited, which is why the condition often runs in families. A person must inherit two copies of the CFTR gene containing mutations (one copy from each parent) to develop cystic fibrosis.
2. Everyone has the gene that causes cystic fibrosis
Everyone is born with two copies of the CFTR gene. The gene is essential for a healthy human body. It only becomes problematic when a child inherits two mutated CFTR genes from their parents.
3. There are many types of mutations of the CFTR gene
Researchers have identified more than 700 mutations of the CFTR gene. These mutations can either be homozygous (identical) or heterozygous (different). The delta F508 mutation is the most common, accounting for about 70% of all CFTR mutations. The type of mutation that a CF sufferer has can affect the severity of their symptoms.
4. The symptoms of cystic fibrosis are severe
CF has a wide variety of signs and symptoms. Their severity will vary greatly between different people and many CF sufferers find that their symptoms change over time. Common CF symptoms include:
- High levels of salt in sweat
- Persistent coughing that produces thick mucus
- Wheezing
- Breathlessness
- Frequent lung infections
- Exercise intolerance
- Inflamed nasal passages
- Foul-smelling or greasy stools
- Poor weight gain and slow growth
- Severe constipation
- Intestinal blockage
5. Cystic fibrosis can cause many dangerous health complications
There are several dangerous health conditions that can be caused by CF, including:
- Damaged airways (bronchiectasis)
- Chronic infections
- Growths in the nose (nasal polyps)
- Coughing up blood (hemoptysis)
- Pneumothorax
- Respiratory failure
- Liver disease
- Acute exacerbations
- Nutritional deficiencies
- Diabetes
- Blocked bile duct
- Intestinal obstruction
- Reproductive system problems
- Distal intestinal obstruction syndrome (DIOS)
6. Cystic fibrosis has two risk factors
A person’s risk of having CF can be increase by:
- Family history – because cystic fibrosis is an inherited disorder, your chances of having it are higher if it runs in your family.
- Race – cystic fibrosis occurs in all races. However, it is more common amongst people of Northern European ancestry.
7. DNA testing can determine if a person carries a CFTR gene mutation
A DNA test can be performed to check if a child has a CFTR gene mutation. However, this test will only check for between 70% – 90% of the known CFTR mutations and is not 100% accurate. Sweat testing can also be performed to determine if someone has cystic fibrosis.
8. A carrier of the CFTR gene mutation can have no symptoms
If a person only has one copy of a mutated CFTR gene, they will not have cystic fibrosis but will be a “carrier” of the gene defect. If they have a child with someone else who also has a mutated CFTR gene, their children may develop cystic fibrosis. When two carriers have a child, there is a:
- 25% chance that the child will have CF
- 50% chance that the child will also be a carrier of the defect
- 25% chance that the child will not have CF and will not carry the CFTR gene mutation
9. It’s dangerous to have two people with CF living together
It is dangerous to have two CF sufferers living together because cystic fibrosis often causes lung infections. They would constantly be at risk of passing infections to one another.
10. There is no cure for cystic fibrosis
While there is currently no cure for cystic fibrosis, many researchers believe that stem cells may be used to successfully treat the condition in the future. There have been several trials which have shown positive results, which we will share in part four of this series.
Cystic Fibrosis and Cord Blood Stem Cells
Researchers at the University of Melbourne faculty of medicine aims to prove that umbilical cord blood could be used to treat CF. The study suggests that umbilical cord blood could be used to restore lung function. While the research is in preliminary stages, the researchers hope to use sibling umbilical cord blood to treat the condition.
Cord blood is a rich source of young and powerful stem cells that can treat more than 85 medical conditions including blood disorders and malignancies (aplastic anaemia, thalassemia, sickle cell anaemia and fanconi anaemia, leukaemia, lymphoma, and multiple myeloma), as well as metabolic disorders (krabbe disease, hurler syndrome, and hunter syndrome).
Stem cells from the cord blood are also being used in clinical trials as potential treatment for brain damage, stroke, hearing loss, autism, cerebral palsy, spinal cord injury, and diabetes.
Private cord blood banking is a growing trend among parents around the world. Many celebrities have also opted to save their baby’s cord blood at birth with the objective of protecting their child’s health in the future. Currently, more than 5 million families have done cord blood banking worldwide and over 40,000 transplants have been done using cord blood stem cells. The stem cells from the cord blood are 100% match to the baby and there is a 25% chance of being a perfect match to siblings. There is also a possibility of being match with other family members.
Watch Video: Why Expecting Parents Save the Cord Blood
Resources
https://ghr.nlm.nih.gov/gene/CFTR
https://med.stanford.edu/cfcenter/education/english/Genetics.html
https://cells4life.com/cystic-fibrosis-and-stem-cells/