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Cystic Fibrosis

Cystic Fibrosis

Cystic fibrosis is a disease that causes mucus in the body to become thick and sticky. This glue-like mucus builds up and causes problems in many of the body's organs, especially the lungs and the pancreas. 

 

People who have cystic fibrosis can have serious breathing problems and lung disease. They can also have problems with nutrition, digestion, growth, and development. There is no cure for cystic fibrosis and the disease generally gets worse over time.

 

The life expectancy for people with cystic fibrosis has been steadily increasing over the past 40 years. On average, people who have cystic fibrosis live into their mid-to-late 30s, although new treatments are making it possible for some people to live into their 40s and longer.

Symptoms

Symptoms of cystic fibrosis are usually caused by the production of thick, sticky mucus. Symptoms vary from person to person and are not always obvious in childhood.

 

Early signs and symptoms

 

Symptoms of cystic fibrosis in a baby or young child may include:

  • A blocked small intestine at birth, called ameconium plug or meconium ileus.
  • Salty sweat or skin.
  • Wanting to eat more or less, having little energy, or losing weight.
  • Unusual bowel movements. This may include diarrhea that does not go away; large, greasy stools; very smelly stools; or constipation. If the intestines become blocked, the child's belly may stick out and the child may not be able to have a bowel movement.
  • Breathing problems or getting tired easily while playing.
  • A cough that does not go away or wheezing.

 

Later signs and symptoms

 

Over time, symptoms may get worse and result in:

  • Coughing up mucus that sometimes has blood in it.
  • Difficulty exercising or not being able to exercise.
  • Rectal prolapse, when part of the rectum protrudes from the anus.

 

Additional symptoms may develop during late childhood or early adulthood, including:

  • Clubbing (rounding and flattening) of the fingers.
  • Growths (polyps) in the nose or sinuses.
  • Not being able to have children (infertility).

Causes

Cystic fibrosis occurs when a child inherits a changed (mutated) cystic fibrosis transmembrane gene from both parents. The gene codes for a protein called the cystic fibrosis transmembrane regulator (CFTR).

 

The changed gene causes problems with the way salt and water move in and out of the cells that make mucus, causing the mucus to be thick and sticky. This kind of mucus makes it hard for the body to keep organs and lungs clean and healthy.

 

If a child inherits the changed CFTR gene from only one parent, the child will not have cystic fibrosis but may be a carrier. This means the child could pass the changed gene on to his or her children.

 

Many people do not know they have the changed gene. If you are the parent of a child who has cystic fibrosis, it is important to remember that nothing you did caused the disease.

Treatment

Most people are diagnosed with cystic fibrosis before they are 1 year old. After a child is diagnosed, a team of health professionals will build a treatment plan based on the child's specific health problems. Treatment is different for everyone but usually involves a combination of medicines and home treatment.

 

Home treatments include getting rid of mucus, eating healthy foods and exercising to help prevent infections and complications. It can be challenging to follow a treatment plan, but doing so will help your child live a longer, healthier life.

 

The best treatment available is generally found at cystic fibrosis multidisciplinary specialist centers. These centers address the medical, nutritional, and emotional needs of people who have cystic fibrosis. 

 

Many people with cystic fibrosis and their families need emotional support to help them live with this life-shortening genetic disease. Support groups, counseling, and educating yourself about the disease can be very helpful.

 

Initial treatment

 

Usually, cystic fibrosis causes problems with both the respiratory  and digestive systems, although sometimes it causes problems only in one or the other. Other parts of the body may also be affected. Tests such as a stool analysis, sputum culture, throat culture, or lung function tests can help your doctor know how serious the disease is and how it is affecting your child's body.

 

Your doctor will ask you about your child's immunizations and schedule any necessary shots. Children with cystic fibrosis should have all the recommended shots in addition to pneumococcal shots. For more information, see the topicImmunizations.

 

Your doctor will want to make sure that your child is eating properly and is gaining weight and growing at a normal rate. He or she will record your child's weight, height, and head size in order to keep track of how your child is developing over time.

 

Your doctor may also talk to you about different therapies used to treat cystic fibrosis.

 

These include:

Respiratory therapy. Respiratory therapy refers to any treatment that slows down lung damage and improves breathing. The focus of this therapy is on reducing infection and getting rid of mucus to keep the lungs healthy.

 

Medicines used in respiratory therapy include:

  • Bronchodilators (such as albuterol or salmeterol), which are used to make breathing easier. They may also make it easier to cough up mucus.
  • DNase (such as Pulmozyme), which is used to thin mucus in the lungs.
  • Mucolytics (such as acetylcysteine ), to thin mucus in the lungs and also in the intestines. These are not used very much, because they can irritate the lungs.
  • An inhaled saltwater solution (hypertonic saline), sometimes used to help clear mucus from the lungs. It is low-cost, and it may help reduceinflammation in the airways.

 

Other ways to help remove mucus from the lungs involve certain types of movements, coughing, or exercises known as airway clearance techniques.

 

These include:

  • Postural drainage and chest percussion, to help your child cough up mucus from the lungs. For specific instructions, see:
  • Deep breathing exercises, to help your child breathe out completely and strengthen the muscles used for breathing.
  • Directed cough to help clear mucus by breathing and coughing in specific ways.
  • Exercise. Aerobic exercise can actually improve how well the lungs work. Ask your doctor about what kinds of exercise your child should do.
  • Alternate methods of airway clearance, such as using a positive expiratory pressure (PEP) mask, high-frequency chest compression vest, or Flutter valve. These methods use mechanical equipment to help clear mucus from the lungs.

 

Digestive therapy is another important part of initial treatment. This therapy works to replace certain digestive enzymes, to make sure the body absorbs all thevitamins and minerals it needs, and to prevent or treat intestinal blockages.

 

Digestive therapy involves:

  • Digestive enzyme replacement therapy (such as with Creon or Pancrease), to help the intestines absorb nutrients from food.
  • Nutritional therapy to help replace lost nutrients. This may include taking vitamins; eating high-calorie, high-fat foods; drinking nutritional drinks; getting fed through a tube in the stomach; and, in some cases, receiving intravenousnutrient supplementation.
  • Preventing intestinal blockages with stool softeners (to avoid constipation) andenemas.

 

Antibiotics—medicines that kill bacteria that cause infections—are often used to treat cystic fibrosis. Some antibiotics may be prescribed to help prevent infections (such as TOBI [tobramycin] or Zithromax). Others may be prescribed to help fight infections (such as Cipro).

 

Ongoing treatment

Most ongoing treatment for cystic fibrosis focuses on controlling and reducing any problems or complications in the respiratory and digestive systems.

 

People with severe lung disease may need to use oxygen at home. Regular visits with the team of health professionals involved in your child's care are also important.

 

Doctors may do certain tests to help find out what kinds of problems your child is having.

 

These tests may include:

  • A throat culture or sputum culture, to identify what kind of bacteria are present. This test helps your doctor prescribe the best type of antibiotic.
  • Lung function tests, to see how healthy the lungs are by checking how well air moves into and out of the lungs.
  • A stool analysis, to see how well the digestive system is working by checking how much fat is in the stool and whether certain enzymes are present.
  • Blood sugar (glucose) tests, to check for diabetes.

 

As children with cystic fibrosis get older, it is important for them to learn how to help care for themselves. Even though it can be hard to follow a treatment plan every day, there are many benefits of home treatments. Skipping a treatment may not make a person feel worse right away, but his or her chances of having more serious problems later increase.

 

Respiratory therapy refers to any treatment that slows down lung damage and improves breathing. Respiratory therapy focuses on reducing infection and getting rid of mucus to keep the lungs healthy.

 

Medicines used in respiratory therapy include:

  • Bronchodilators (such as albuterol or salmeterol), which are used to make breathing easier. Bronchodilators may also make it easier to cough up mucus.
  • DNase (such as Pulmozyme), which is used to thin mucus in the lungs.
  • Mucolytics (such as acetylcysteine), which are used to thin mucus in the lungs and also in the intestines. These are not used very much, because they can irritate the lungs.
  • An inhaled saltwater solution (hypertonic saline), sometimes used to help clear mucus from the lungs. It is low-cost, and it may help reduce inflammation in the airways.

 

Other ways to help remove mucus from the lungs involve certain types of movements, coughing, or exercises known as airway clearance techniques.

 

These include:

  • Postural drainage and chest percussion, to help your child cough up mucus from the lungs. For specific instructions, see:
  • Deep breathing exercises, to help your child breathe out completely and strengthen the muscles used for breathing.
  • Directed cough to help clear mucus by breathing and coughing in specific ways.
  • Exercise. Aerobic exercise can actually improve how well the lungs work. Ask your doctor about what kinds of exercise your child should do.
  • Alternate methods of airway clearance, such as using a positive expiratory pressure (PEP) mask, high-frequency chest compression vest, or Flutter valve. These methods use mechanical equipment to help clear mucus from the lungs.

 

Digestive therapy is another important part of ongoing treatment. This therapy works to replace certain digestive enzymes, to make sure the body absorbs all the vitamins and minerals it needs, and to prevent or treat intestinal blockages.

 

Digestive therapy involves:

  • Digestive enzyme replacement therapy (such as with Creon or Pancrease), to help the intestines absorb nutrients from food.
  • Nutritional therapy to help replace lost nutrients. This may include taking vitamins; eating high-calorie, high-fat foods; drinking nutritional drinks; receiving intravenous nutrient supplementation; and, in some cases, getting fed through a tube in the stomach.
  • Preventing intestinal blockages with stool softeners (to avoid constipation) and enemas.

 

Antibiotics—medicines that kill bacteria that cause infections—are often used to treat cystic fibrosis. Some antibiotics may be prescribed to help prevent infections (such as TOBI [tobramycin] or Zithromax). Others may be prescribed to help fight infections (such as Cipro).

 

Treatment if the condition gets worse

Serious cystic fibrosis problems or complications occur when the respiratory system or digestive system becomes damaged.

 

Bronchiectasis, which is caused by long-lasting airway inflammation, is common. Most people who have complications will have to stay in the hospital. Treatment for complications may include medicines or surgery, depending on the person's age and symptoms.

 

Some of the tests that help the doctor know what kinds of problems your child is having include:

  • A chest X-ray, to look for signs of lung infection or other problems.
  • A CT scan, to identify any serious disease in the lungs, pancreas, or other organs.

 

If complications develop, one or more of the following medicines may be needed:

  • Antibiotics, to treat infection.
  • Anti-inflammatories, (including nonsteroidal anti-inflammatory drugs [NSAIDs], membrane stabilizers, and corticosteroids), to reduce inflammation.
  • Bronchodilators and anticholinergics, to open airways in the lungs.
  • DNase (such as Pulmozyme) or, in rare cases, mucolytics, to control the amount and thickness of mucus and to reduce the chance of infection.

 

Sometimes surgery is needed to treat complications of cystic fibrosis.

 

Procedures may include:

  • Chest tube drainage and possible thoracoscopy, to treat a collapsed lung(pneumothorax).
  • A lung transplant.
  • Repair of an intestine that has collapsed inside itself or the removal of a bowel obstruction.
  • Removal of nasal polyps or endoscopic sinus surgery.
  • Abdominal or perineal (anal) surgery for rectal prolapse , in rare cases.

 

Other treatments used to treat complications from cystic fibrosis may include:

  • Blood transfusions and medicines to treat the bleeding (embolization therapy), if your child is coughing up large amounts of blood. Coughing up small amounts of blood is normal for people who have cystic fibrosis, but coughing up large amounts of blood can be life-threatening.
  • Placement of a feeding tube into your child's stomach.
  • Placement of a semipermanent intravenous (IV) tube in order to give your child antibiotics frequently without having to place a line in the vein each time.

 

As they grow older, adults who have cystic fibrosis can develop other serious conditions such as infertility or diabetes. These problems will also require treatment.

 

Palliative care

As your condition gets worse, you may want to think about palliative care. Palliative care is a kind of care for people who have illnesses that do not go away and often get worse over time. It is different from care to cure your illness, called curative treatment. Palliative care focuses on improving your quality of life—not just in your body, but also in your mind and spirit. Palliative care can be combined with curative care.

 

Palliative care may help you manage symptoms or side effects from treatment. It could also help you cope with your feelings about living with a long-term illness, make future plans around your medical care, or help your family better understand your illness and how to support you.

 

If you are interested in palliative care, talk to your doctor. He or she may be able to manage your care or refer you to a doctor who specializes in this type of care.

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