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Cystic-fibrosis

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Cystic-fibrosis
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Cystic Fibrosis

Cystic fibrosis is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body.


Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with cystic fibrosis, a defective gene causes the secretions to become sticky and thick. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.


Although cystic fibrosis requires daily care, people with the condition are usually able to attend school and work, and often have a better quality of life than people with cystic fibrosis had in previous decades. Improvements in screening and treatments mean people with cystic fibrosis now may live into their mid- to late 30s, on average, and some are living into their 40s and 50s.

Cystic fibrosis is caused by a faulty gene that a child inherits from both of their parents.

The faulty gene affects the movement of salt and water in and out of cells. This, along with recurrent infections, can result in a build-up of thick, sticky mucus in the body's tubes and passageways.

To be born with cystic fibrosis, a child has to inherit two copies of this faulty gene – one from each of their parents. Their parents will not usually have the condition themselves, because they will only carry one faulty gene and one that works normally.

If both parents carry the faulty gene, there's a 25% chance that each child they have will be born with cystic fibrosis.

Screening of newborns for cystic fibrosis is now performed in every state in the United States. As a result, the condition can be diagnosed within the first month of life, before symptoms develop. For people born before newborn screening was performed, it's important to be aware of the signs and symptoms of cystic fibrosis.

Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not experience symptoms until adolescence or adulthood.

People with cystic fibrosis have a higher than normal level of salt in their sweat. Parents often can taste the salt when they kiss their children. Most of the other signs and symptoms of cystic fibrosis affect the respiratory system and digestive system. However, adults diagnosed with cystic fibrosis are more likely to have atypical symptoms, such as recurring bouts of inflamed pancreas (pancreatitis), infertility and recurring pneumonia.

Respiratory signs and symptoms
The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause signs and symptoms such as:

A persistent cough that produces thick mucus (sputum)
Wheezing
Breathlessness
Exercise intolerance
Repeated lung infections
Inflamed nasal passages or a stuffy nose
Digestive signs and symptoms
The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these digestive enzymes, your intestines aren't able to completely absorb the nutrients in the food you eat. The result is often:

Foul-smelling, greasy stools
Poor weight gain and growth
Intestinal blockage, particularly in newborns (meconium ileus)
Severe constipation
Frequent straining while passing stool can cause part of the rectum — the end of the large intestine — to protrude outside the anus (rectal prolapse). When this occurs in children, it may be a sign of cystic fibrosis. Parents should consult a physician knowledgeable about cystic fibrosis. Rectal prolapse in children may sometimes require surgery. Rectal prolapse in children with cystic fibrosis is less common than it was in the past, which may be due to earlier testing, diagnosis and treatment of cystic fibrosis.

When to see a doctor
If you or your child has symptoms of cystic fibrosis — or if someone in your family has cystic fibrosis — talk with your doctor about testing for the disease.
The type and severity of CF symptoms can differ widely from person to person. Therefore, although treatment plans can contain many of the same elements, they are tailored to each individual's unique circumstances.

People with CF need to work closely with their medical professionals and families to create individualized treatment plans. 

The CF Foundation accredits more than 120 care centers that are staffed by dedicated healthcare professionals who provide expert CF care and specialized disease management.

Each day, people with CF complete a combination of the following therapies:

Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs. Some airway clearance techniques require help from family members, friends, or respiratory therapists. Many people with CF use an inflatable vest that vibrates the chest at a high frequency to help loosen and thin mucus.
Inhaled medicines to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer. These medicines include antibiotics to fight lung infections and therapies to help keep the airways clear.

Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with CF also usually take multivitamins.  
The CF Foundation supports research to discover and develop new CF treatments and maintains a pipeline of potential therapies that target the disease from every angle. 

In 2015, the United States Food and Drug Administration approved the second drug to treat the root cause of cystic fibrosis, a defective protein known as CFTR. The first drug targeting the basic genetic defect in CF was approved in 2012. The arrival of this group of drugs, called CFTR modulators, signals a historic breakthrough in how CF is treated. It's expected that CFTR modulators could add decades of life for some people with CF.

Today, the Foundation is focused on developing lifesaving new therapies for larger numbers of people with CF and pursuing daring, new opportunities to one day develop a lifelong cure. 
https://www.mayoclinic.org
https://www.nhs.uk
https://www.cff.org
Cystic Fibrosis

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