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What is cystic fibrosis?

What is cystic fibrosis?

What is cystic fibrosis?

Cystic fibrosis is an inherited disease in which the body produces very thick and sticky mucus. Mucus causes problems in the lungs, pancreas and other organs.

People with cystic fibrosis have frequent lung infections. As time goes by, they have more difficulty breathing. They also have digestive problems that make it difficult for them to gain weight.

What are the signs and symptoms of cystic fibrosis?

Cystic fibrosis can cause symptoms soon after the baby is born. The first sign that a baby might have cystic fibrosis is an intestinal blockage called "meconium ileus." Other children have no symptoms until later. Cystic fibrosis can be mild or severe, depending on the person.

Symptoms of cystic fibrosis include:

  • lung infections or pneumonia
  • wheezing or wheezing
  • cough with thick mucus
  • voluminous and greasy belly movements
  • constipation or diarrhea
  • difficulty gaining weight or growing in height
  • very salty sweat
  • Some children may also have nasal polyps (small growths of tissue inside the nose), frequent sinus infections, and tiredness.

How is cystic fibrosis diagnosed?

Neonatal screening tests detect most cases of cystic fibrosis. If screening tests are positive or if the child has symptoms of cystic fibrosis, doctors will do a painless sweat test. They will collect sweat from an area of ​​skin (usually the forearm) to see how much chloride (a chemical found in salt) is present. People with cystic fibrosis have higher chloride levels.

Most children who have cystic fibrosis are diagnosed before age 2. But some with a mild form may not be diagnosed until adolescence.

How is cystic fibrosis treated?

Children with cystic fibrosis will have it for life. Doctors use different medications depending on the child's needs. But everyone with cystic fibrosis needs the following:

Soften and clear mucus. There are different ways to achieve this. Doctors may recommend that a child do the following:

  • do physical exercise regularly
  • use an inhaler or nebulizer
  • do breathing exercises and cough deliberately
  • wear a special t-shirt that makes your chest vibrate
  • do physical therapy on the chest (a parent or trained person gently taps the chest or back)
  • Prevent or combat infections. Frequent and proper handwashing, avoiding sick people, and staying at least 6 feet away from other people with cystic fibrosis are steps that can help prevent infections. Taking antibiotics preventively may also be helpful.
  • Take enzymes. Most children with cystic fibrosis need enzymes to help them digest food and get the nutrients in it.
  • Eat a high-calorie diet and take vitamin supplements when necessary.

What is the cause of cystic fibrosis?

Cystic fibrosis is caused by a change (a mutation) in the gene that makes the cystic fibrosis transmembrane conductance regulator (CFTR) protein. To have cystic fibrosis, a baby must receive two copies of the cystic fibrosis gene; one from each parent.

What happens when there is cystic fibrosis?

In cystic fibrosis, the body does not produce the CFTR protein or produces it defectively. Without a normal CFTR protein, the cells that line the pathways (tubes) inside the organs produce thick, sticky mucus instead of normal mucus that is watery and runny.

Thick mucus can trap bacteria in the lungs and cause infections, inflammation, and breathing problems. Mucus can also block the pathways through which digestive enzymes flow between the pancreas and the intestines. This makes it difficult for the child to digest food and get the vitamins and nutrients he or she needs.

Thick mucus can also affect the liver, sweat glands, and reproductive organs.

How can parents help?

To help your child:

Follow the treatment plan. Help your child stay as healthy as possible. Give medications as directed, give snacks and high-calorie foods, and follow instructions for clearing mucus from the chest.

  • Encourage him. Help your child find hobbies they enjoy, such as art, music, reading, or learning to cook. It is important for children with cystic fibrosis to get physical exercise; Therefore, find ways for your child to stay physically active. Maybe you can do some activities together.
  • Contact your care team. Your child's care team can give you practical tips for living with cystic fibrosis and information about clinical trials, support groups, and new therapies.
  • Learn everything you can about cystic fibrosis. Experts are constantly working on new treatments to help people with cystic fibrosis have a better quality of life and live longer. Look for online resources, such as the Cystic Fibrosis Foundation site.
  • As your child grows, teach him or her to take care of himself. Start helping your child understand and manage cystic fibrosis early. Encourage older children or teens to manage some parts of their healthcare, such as disinfecting equipment or asking questions during doctor visits. Ask your care team how you can help your child prepare for things like going to college or getting a job. Learning about cystic fibrosis and its care helps children and adolescents become adults confident in managing a chronic health condition.


"Because prevention is better than cure"

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