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Cystic Fibrosis Information (Pictures)

Cystic fibrosis (CF) is a life-threatening disorder that causes severe lung damage and nutritional deficiencies.

Sometimes called mucoviscidosis, cystic fibrosis is a generalized dysfunction of the exocrine glands that affects multiple organ systems. Transmitted as an autosomal recessive trait, it's the most common fatal genetic disease of white children.

Cystic fibrosis is a chronic disease; however, recent improvements in treatments have increased the average life expectancy from age 16 to age 28 and older.

Incidence of cystic fibrosis is highest (1 in 2,000 live births) in Whites of northern European ancestry and lowest in Blacks (1 in 17,000 live births), Native Americans, and people of Asian ancestry. The disease occurs equally in both sexes.

Causes The recently identified gene responsible for cystic fibrosis encodes a protein that involves chloride transport across epithelial membranes. To date, over 100 specific mutations of this gene have been identified. The immediate causes of symptoms are increased viscosity of bronchial, pancreatic, and other mucous gland secretions and consequent obstruction of glandular ducts. Cystic fibrosis accounts for almost all cases of pancreatic enzyme deficiency in children.

Signs and symptoms

The first signs and symptoms of cystic fibrosis generally include any of the following:

• Chronic cough, possibly with blood streaking
• Wheezing
• Frequent chest and sinus infections with recurring pneumonia or bronchitis.
• Frequent respiratory infections
• Vomiting
• Fast respiration
• Fever
• Dehydration in hot weather

In advanced stages of cystic fibrosis, the person will experience any of the above signs and symptoms, as well as those listed below.

• Liver disease
• Clubbing of fingers
• Slow weight and height gain

If people with CF do not have proper treatment, they will continue to have oily bowel movements, abdominal pain, and problems putting on weight. Constipation is also a frequent symptom. Occasionally the gut becomes completely blocked, resulting in extreme stomach pain.

Diagnosis

The Cystic Fibrosis Foundation sets the following standards for a definitive diagnosis:

• Two sweat tests using a pilocarpine solution (a sweat inducer) are clearly positive; the patient also has either an obstructive pulmonary disease, confirmed pancreatic insufficiency or failure to thrive, or a family history of cystic fibrosis.
• Chest X-rays indicate early signs of obstructive lung disease.
• Stool specimen analysis indicates the absence of trypsin, suggesting pancreatic insufficiency.

Treatment

The aim of treatment is to help the child lead as normal a life as possible. Specific treatment depends on the organ systems involved.

• To combat sweat electrolyte losses, treatment includes generous salting of foods and, during hot weather, administration of sodium supplements.
• To offset pancreatic enzyme deficiencies, treatment includes oral pancreatic enzymes with meals and snacks. The child's diet should be low in fat but high in protein and calories, and it should include supplements of water miscible, fat-soluble vitamins (A, D, E, and K).
• Management of pulmonary dysfunction includes chest physiotherapy, postural drainage and breathing exercises several times daily to aid removal of secretions from lungs. Antihistamines are contraindicated; they have a drying effect on mucous membranes, making expectoration of mucus difficult or impossible.

Aerosol therapy includes intermittent nebulizer treatments before postural drainage to loosen secretions. Dornase alfa, a genetically engineered pulmonary enzyme given by aerosol nebulizer, helps thin airway mucus, improving lung function and reducing the risk of pulmonary infection.

A patient with pulmonary infection will need mucopurulent secretions loosened and removed, using an intermittent nebulizer and postural drainage to relieve obstruction. Use of a mist tent is controversial because mist particles may become trapped in the esophagus and stomach and never even reach the lungs. Broadspectrum antimicrobials help combat infection. Oxygen therapy is used as needed.

Recently, some patients have undergone lung transplantation to reduce the effects of the disease. Also, clinical trials of aerosol gene therapy show promise in reducing pulmonary symptoms.

Prevention

There is no way to prevent cystic fibrosis. Screening of family members of a cystic fibrosis patient may detect the cystic fibrosis gene in between 60 and 90% of carriers, depending on the test used.