Cystic Fibrosis

Cystic fibrosis (CF) is an inherited disease characterized by an abnormality in the body's salt, water- and mucus-making cells. While it is a chronic, progressive disease improved treatments have significantly extended life expectancy.  Most people with CF live into their late 30s, and many even into their 50s or longer. Some CF patients now live into their 70's. 

Children with CF have an abnormality in the function of a cell protein called the cystic fibrosis transmembrane regulator (CFTR). CFTR controls the flow of water and certain salts in and out of the body's cells. As the movement of salt and water in and out of cells is altered, mucus becomes thickened. The thickened mucus can affect many organs and body systems including:

  • Respiratory. This includes sinuses and lungs.
  • Digestive. This includes pancreas, liver, gallbladder, and intestines.
  • Reproductive. Both men and women may experience reproductive problems
  • Sweat glands

About 30,000 people in the U.S. are affected with the disease. It occurs mainly in whites who have a northern European heredity, although it also occurs in Hispanics, African-Americans, Asian Americans, and American Indians.

More than 10 million people in the U.S. are carriers of the cystic fibrosis gene. These people are not affected by the disease, and usually do not know that they are carriers.

Symptoms of Cystic Fibrosis

What are the symptoms of cystic fibrosis?

Many children today are diagnosed with cystic fibrosis (CF) before they have any symptoms. This is because of an increase in newborn screening programs. Before screening programs existed, most children with CF were diagnosed after one of the following:

  • Respiratory symptoms. Most commonly cough, wheezing, or breathing difficulty.
  • Meconium ileus. A thick and sticky first bowel movement of a baby that can block the small intestine.
  • Failure to thrive. Not gaining weight as is normal after birth.

The following are the most common symptoms for CF. However, each child may experience symptoms differently. Symptoms also may depend on when your child is diagnosed.

Symptoms may include:

  • Salty tasting skin
  • Chronic respiratory symptoms like wheezing, cough, and colored sputum
  • Lung infections
  • Poor growth
  • Constipation
  • Greasy and bulky stools

Other medical problems

These are other medical problems that may occur in some children with CF:

  • Sinusitis or infection of the sinuses
  • Nasal polyps or an abnormal growth out of the mucus membranes of the nose
  • Clubbing of fingers and toes. This is a condition marked by the ends of the fingers and toes become enlarged. It occurs more often in the fingers.
  • Pneumothorax or collapsed lung. The presence of air or gas in the plural cavity causes the lung to collapse.
  • Hemoptysis, or coughing up blood
  • Cor pulmonale. Right-sided heart failure from long-term high blood pressure in the lung arteries.
  • Abdominal pain
  • Gas in the intestines
  • Rectal prolapse or a protruding of the rectum out of the anus
  • Liver disease
  • Diabetes
  • Pancreatitis. This is an inflammation of the pancreas, an organ that creates many hormones and enzymes the body needs to function properly.
  • Gallstones
  • Congenital bilateral absence of the vas deferens in males

As stated above, the symptoms of CF differ for each child. Infants born with CF usually show symptoms within the first year. Some children, though, may not show symptoms until later in life. The following symptoms may indicate CF, and infants having these signs may be tested for CF:

  • Diarrhea that doesn’t go away
  • Foul-smelling stools
  • Greasy stools
  • Frequent episodes of wheezing
  • Frequent episodes of pneumonia
  • Persistent cough
  • Skin tastes like salt
  • Poor growth
  • Chronic sinus infection

The symptoms of CF may resemble other conditions or medical problems. Always consult your child's doctor for a diagnosis.

Diagnosis

Diagnosis

How is cystic fibrosis diagnosed?

In addition to a complete medical history and physical exam, diagnostic procedures for cystic fibrosis (CF) may include:

  • Sweat (chloride) test. A test to measure the amount of chloride in the sweat. The test is done by placing a solution on the forearm (or the thigh, if the child is too small) and attaching electrodes. The skin is stimulated to sweat with a mild electric current, which does not cause pain or harm to your child. The sweat is collected onto a gauze pad and analyzed. Higher than normal amounts of chloride may suggest CF. The sweat test is not painful and usually causes only minor discomfort.
  • Genetic tests. Blood or cells taken from a cheek scraping can be tested for mutations in the CFTR gene. 

As part of the doctor's assessment of CF symptoms, your child may also have these diagnostic procedures:

  • Blood tests. Blood tests, including pancreatic function tests, can look at infection and to see which organs may be affected. 
  • Chest X-rays. A diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
  • Pulmonary function tests. Diagnostic tests that help to measure the lungs' ability to exchange oxygen and carbon dioxide appropriately. The tests are usually done with special machines that a child must breathe into.
  • Sputum cultures. A diagnostic test done on the material that is coughed up from the lungs and into the mouth. A sputum culture is often done to find out if an infection is present.
  • Stool evaluations. These are done to measure stool fat absorption.
Treatments

Treatments

Specific treatment for cystic fibrosis (CF) will be determined by your child's doctor based on:

  • Your child's age, overall health, and medical history
  • Extent of the disease (body systems affected)
  • Your child's tolerance for specific medications, procedures, or therapies
  • Your opinion or preference

At the present time, there is no cure for CF. However, research in gene therapy is being done. The gene that causes CF has been identified, and this may lead to an increased understanding of the disease. Gene therapy research hopes to eventually cure, prevent, or slow progression of the disease. Goals of treatment are to ease severity of symptoms and slow the progress of the disease. Treatment may include:

  • Management of problems that cause lung obstruction, which may involve:
    • Chest physical therapy. This is to help loosen and clear lung secretions, which may include postural drainage, and devices, such as a percussor or flutter, which vibrate the chest wall and loosen secretions. Chest physical therapy can be done manually or mechanically, with a vest.
    • Exercise. This can help loosen mucus, stimulate coughing, and improve overall physical condition.
    • Medications, such as bronchodilators and anti-inflammatories. These are used to decrease inflammation, reduce mucus, draw water into the lungs to loosen mucus, and help breathing.
    • Antibiotics. These are used to treat infections.
  • Management of digestive problems, which may involve:

    • Appropriate diet
    • Pancreatic enzymes to aid digestion
    • Vitamin supplements
    • Treatments for intestinal obstructions
  • Psychosocial support. Provides help in dealing with issues such as coping, independence, sterility, and sexuality, financial issues, and relationships.

As lung disease progresses to end stage, other medical options include lung transplantation. The type of transplant done is usually a double lung transplant, because leaving the other, sicker lung in place puts it at risk for infection and damage. Not everyone is a candidate for a lung transplant. Consult your child's doctor for more information.

With medical and psychosocial support, many children and adolescents with CF can cope well and lead a productive life.

Children's Team

Children's Team

Providers

Our Stories

Our Stories

Ryan M.'s Story

"I assure you, cystic fibrosis may have won the battle, but we are going to win the war."

Departments

Departments

Cystic Fibrosis Center

Children’s National's Cystic Fibrosis (CF) Center offers a multidisciplinary team of specialists who see to all aspects of care for inpatients and outpatients of all ages with CF.

Pulmonary Medicine

Children’s National is ranked by U.S.News & World Report as one of the nation’s best pediatric hospitals for pulmonary medicine because of our expertise in the field and the quality of care provided to patients and their families.

Pre-Operative Care Clinic

When your child is having surgery at Children’s National Health System, the Pre-Operative Care Clinic’s (POCC) team of pediatric professionals screens patients for surgery and creates a specific care plan for each patient.

Bone Health Program

Certain illnesses and medications can affect the strength and density of a child’s bones. We created the Bone Health Program to help all young patients maintain strong bones and reduce the risk of broken bones (fractures) and other injuries.

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