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Portable Oxygen Concentrator Resource Center

Cystic Fibrosis and Genetics: What You Should Know

Posted by Erin Lowry on Aug 7, 2018 10:32:07 AM


cystic fibrosis and genetics: what you should know

Cystic Fibrosis is a progressive, genetic lung disease where lung infections are common, and over time the lung has less functioning area to take in oxygen.

The genetic component of CF stems from the CFTR gene (cystic fibrosis transmembrane conductance regulator), though everyone has two of this gene, if both genes (one from your father one from your mother) are mutated, you will have cystic fibrosis.

CF causes a buildup of thick and sticky mucus, which can block the airways in the lungs, pancreas and other organs in the body.

This can make it harder to breathe and cause infection, as the mucus can trap bacteria, leading to infections, lung damage and possible respiratory failure.

In the pancreas, and other organs, the mucus buildup can prevent digestive enzymes and other important cells to be released to help the body function.

Cystic Fibrosis:

Cystic fibrosis in inherited from your parents, though everyone has two of the CFTR gene, both must be mutated in order to get CF.

For those mutations to affect you, each parent must have one defective/mutated gene (as each person has two of the CFTR gene) and pass it on to their offspring.

The cells affected by CF produce sweat and digestive fluids, a normally slippery and thin substance.

For those with CF, this fluid tends to be very thick and sticky, so instead of coating the lungs and pancreas, it causes the airways and passageways to get clogged.

Screenings for CF occur in newborns in every state here in the U.S., making it easier to diagnosis at the beginning of life.

This early screening has helped those with cystic fibrosis live into their mid to late 30s, and many are going farther into their 40s and 50s.

For those who were diagnosed with CF before newborn screenings started, it is important to see the doctor regularly to get checkups and tested.

It is also important to know your personal symptoms of cystic fibrosis and understand other symptoms as well.

For those with an early diagnosis, symptoms may not be present until their adolescence or early adulthood.

cystic fibrosis

Common symptoms for CF revolve around the respiratory and digestive system, as the mucus does affect the lungs and pancreas.

Many common symptoms of the respiratory system include coughing, wheezing, shortness of breath, and lung infections.

These symptoms tend to occur due to the buildup of mucus in the lungs, which can force the lungs to cough and wheeze in attempt to expel the mucus.

Common symptoms of the digestive system include inability of weight gain, constipation, poor growth, high blood sugar symptoms (like being thirsty and urinating a lot) and pancreatitis (inflammation of the pancreas).

Digestive symptoms tend to occur because of pancreas issues, when the mucus buildups in the pancreas it can prevent nutrients from being absorbed into the body, which can cause the inability to gain any weight and lack of growth symptoms.

Another huge symptom not related to the respiratory system or digestive system includes the skin tasting salty.

More serious symptoms of cystic fibrosis are liver disease, and in men, it is possible that it can affect their ability to have children.

Both of these symptoms are caused from mucus blocking ducts and passageways which can prevent the body from functioning properly.

It is common for the symptoms to get worse as the individual ages, and it is common for those with cystic fibrosis to live until their 40s and 50s.

There are current medications and treatments have helped the life expectancy expand, as it was previously given a short survival rate.

Many children diagnosed back in the 1950’s did not live long enough to attend elementary school.

Diagnosis for CF:

There are multiple ways to test for and diagnosis CF, including newborn screenings, genetic testing, sweat testing and nasal lining testing.

Newborn testing is done at the infancy stage of childhood, the test is done to measure a high level of enzyme called immunoreactive trypsin, which is found in the blood.

The test is done by pricking the bottom of the baby’s foot and the blood is collected and examined.

Genetic testing looks into the blood, hair, skin or other tissue of the individual.

Once the sample is taken, it is sent to a lab to look into the DNA in the sample and determine if both of the CFTR genes are mutated.

Sweat testing takes a sample of sweat from the skin, and then the chloride levels are measured.

It is common for those with cystic fibrosis to have high levels of chloride in their sweat from the lack of CFTR keeps the salt on the skin versus being reabsorbed back into the body.

Nasal lining testing is done by measuring an electrical current that is run across the epithelium (nasal lining) and different solutions are applied while the current is run.

This can help diagnosis CF because those with CF have a different response compared to those who do not have CF.

Treatment for CF:

Currently there is no known cure for cystic fibrosis, though they are getting closer to possible cures.

daily pill bottles

There are a long list of medications used to help treat cystic fibrosis, many used in conjunction with each other.

Antibiotics may be used to prevent infection in the lungs, less likely to be used as a reactive medication, but a preventative medication.

Anti-inflammatory medication may be used to help any swelling in the airways or pancreas, which can make it easier to digest food and get nutrients from food.

Mucus-thinning medication can help with cough and wheezing by thinning out the mucus that has built up in the lungs.

Bronchodilators may also help those with cystic fibrosis by opening the lungs and relaxing the muscles.

Oral pancreatic enzymes may be used to help the body digest and absorb any nutrients from food consumption.

Besides medication, there are therapy treatments that may make it easier to breathe.

Chest therapy is a commonly recommended therapy for those with cystic fibrosis.

Chest therapy is a process to help drain the lungs of excess fluid and to hopefully help breathing.

The process involves getting the patient into different positions and use gravity to drain mucus from the lungs.

There may also be “percussion” drainage, where a caregiver or partner taps or helps vibrate the patient’s chest with the goal to help the mucus drain and get to a part of the body that can cough out the mucus.

Like many respiratory diseases, CF is often treated with pulmonary rehabilitation.

PR is a long-term treatment plan that focuses on the patient’s lung function.

Pulmonary rehabilitation is similar to physical therapy, often meeting a few times a week to help with overall health.

Physical exercise may be used to help your lung function and volume, breathing techniques may be used to help with breathing and to loosen mucus.

Counseling for both mental health and physical health, such as nutrition and breathing, may also be used to help keep the patient on track for their mental and physical health.

Oxygen therapy or supplemental oxygen can also be used to help the patient get more oxygen per breath, compared to their regular breathing.


lab testing for DNA

As we know, genetics make up who we are and can play a role in possible illnesses.

Both the egg and the sperm have one copy of the 23 chromosomes, when the egg and sperm meet, they combine their half of the 23 chromosomes and help create the offspring.

Genetics play a role in cystic fibrosis, as everyone carries the CFTR gene, but only a few people have a mutation.

If both parents have the mutation passed on, the offspring can then get cystic fibrosis.

Though the parents carry the mutation, it does not mean either of them have the disease, but it is possible for a parent to have the disease and pass on the mutation to their offspring.

Though it is an inherited disease, both copies of the CFTR gene must be present to have the disease.

Millions of people in the U.S. are carriers of the CF gene, but only one copy of the CFTR gene does give the carrier cystic fibrosis.

It is possible for carriers of the CFTR gene mutation to pass on the carrier gene, but that does not mean that the offspring will get CF.

One pair of the 23 genes is the CFTR gene, which can be affected by mutations.

The CFTR gene helps regulate sale and fluid in and out of the cells in the body (mainly the lungs and pancreas).

For those with CF, having the mutations in the CFTR gene can disrupt normal function of the human body.

This can affect protein in the lungs and make the lungs weaker or more susceptible to illnesses.


Though cystic fibrosis is an inherited disease, it does not mean your parents must have it for you to have it.

It is possible for them to carry the mutation and pass it on to you without having CF themselves.

If you are interested more in knowing about your CFTR genes and if you have any mutations, you can talk to your doctor about DNA tests.

Understanding the risk of CF and the possibility to pass a mutation on to your children is important to help with an early diagnosis.

Most importantly, if you feel you may have symptoms of CF, or you feel that you carry the mutation, speak with your doctor, as they are able to assess test results and help determine your risk.

Your doctor will also be able to help find a treatment plan for you if you are diagnosed with cystic fibrosis.

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