CYSTIC FIBROSIS (CF)

General Information

DEFINITION--An inherited disease in which mucus-producing glands throughout the body--especially in the pancreas, intestine and lung--fail to produce normal enzymes and mucus.

BODY PARTS INVOLVED--Pancreas; lungs; sweat glands of the skin; gastrointestinal tract.

SEX OR AGE MOST AFFECTED--Children of both sexes.

SIGNS & SYMPTOMS

Newborn period:

• Thick, sticky stools (meconium), which may cause intestinal obstruction.

Later:

• Poor weight gain despite good appetite.
• Bad-smelling, large, fatty stools.
• Chronic cough.
• Frequent, severe respiratory infections with sticky, hard-to-cough-up sputum.
• Salty sweat.
• Enlarged liver and spleen.

CAUSES--Genetic factors. Many people carry the gene for cystic fibrosis, and 1 in 3,000 newborns is born with it. The gene causes abnormal mucus in the respiratory and gastrointestinal tracts and sweat glands. This causes lung obstruction and infection, poor digestion and poor food absorption.

RISK INCREASES WITH--Family history of cystic fibrosis. If both parents are carriers of one copy of the cystic fibrosis gene, the chances are 1 in 4 that each child will have the disease.

HOW TO PREVENT--If you have a family history of cystic fibrosis, seek genetic counseling before starting a family. A medical test to determine if you are a carrier is available.

What To Expect

DIAGNOSTIC MEASURES--

• Your own observation of symptoms. Sometimes a parent notes a very salty taste when kissing a child.
• Medical history and exam by a doctor.
• Laboratory studies to analyze sweat, stools and digestive juices.

APPROPRIATE HEALTH CARE

• Team approach (respiratory therapist, nurse, nutritionist, physical therapist, counsellor, social worker) to help with the child's care.
• Goals of therapy are to prevent and treat respiratory failure and pulmonary complications.
• Surgery to relieve intestinal obstruction (sometimes).
• Hospitalization to control serious infections, which occur frequently.
• Lung transplants are often needed in the later stages of the disease (see Lung Transplantation and Heart-Lung Transplantation in Surgery section).

> Fluid and electrolyte imbalance--

especially in hot weather.

• Malnutrition.
• Nasal polyps.
• Rectal prolapse.

PROBABLE OUTCOME--This condition is currently considered incurable and can be fatal in childhood. Careful long-term care by parents and professionals can help children lead reasonably comfortable lives. Children with milder forms may live to adulthood, especially if the disorder is detected early. The average age of survival is 31 years. Researchers have identified the gene that produces cystic fibrosis. New strategies are in development to prevent and treat this disease.

How To Treat

GENERAL MEASURES--

• Seek care at a specialized cystic fibrosis care center. Learn as much as possible about this condition. Diet, medication and early recognition of infection are very important.
• You will be instructed on how to perform daily postural drainage to drain mucus from the lungs, and chest percussion to shake loose sticky mucus plugs.
• Use a cool-mist, ultrasonic humidifier in your child's room whenever he or she has respiratory symptoms. Moisture helps thin mucus so it can be coughed up more easily.
• Keep your child's immunizations, including influenza vaccines, up to date.
• Join a support group for parents of children with cystic fibrosis.
• Encourage your child to lead as normal and active a life as possible.
• See Resources for Additional Information.

MEDICATION--Your doctor may prescribe: Digestive enzymes; antibiotics when lung infections occur; antibiotics to help loosen lung secretions; anti-inflammatory drugs.

ACTIVITY--As much as the condition permits.

DIET--Your child should eat a low-fat diet with adequate protein. Consult a dietitian for specific instructions. Vitamin and mineral supplements may be necessary. Encourage intake of liquids, which helps thin mucus.

Call Your Doctor If

• You suspect your child has cystic fibrosis.
• After diagnosis, your child develops fever, a worsening cough and muscle aches.