Cystic Fibrosis

Is an autosomal recessive disorder affecting the exocrine glands, in which their secretions become abnormally viscous and liable to obstruct glandular ducts.

It primarily affects pulmonary and GI function.

The average life expectancy for the cystic fibrosis patient is currently age 30 to 40. Death may occur because of respiratory infection and failure.

Other complications include esophageal varices, diabetes, chronic sinusitis, pancreatitis, rectal polyps, intussusceptions, growth retardation, and infertility.

Assessment:

Usually present before age 6 months but severity varies and may present later.

Meconium ileus is found in neonate.

Usually present with respiratory symptoms, chronic cough, and wheezing.

Parents may report salty taste when skin is kissed.

Recurrent pulmonary infections.

Failure to gain weight or grow in the presence of a good appetite.

Frequent, bulky, and foul smelling stools (steatorrhea), excessive flatus, pancreatitis and obstructive jaundice may occur.

Protuberant abdomen, pot belly, wasted buttocks.

Bleeding disorders.

Clubbing of fingers in older child.

Increased anteroposterior chest diameter (barrel chest).

Decreased exertional endurance.

Hyperglycemia, glucosuria with polyuria, and weight loss.

Sterility in males.

Diagnostic Evaluation:

Sweat chloride test measures sodium and chloride level in sweat.
Chloride level of more than 60 mEq/L is virtually diagnostic.
Chloride level of 40 to 60 mEq/L is borderline and should be repeated.

Duodenal secretions: low trypsin concentration is virtually diagnostic.

Stool analysis:
Reduced trypsin and chymotrypsin levels-used for initial screening for cystic fibrosis.
Increased stool fat concentration.
BMC ( Boehringer-Mannheim Corp.) meconium strip test for stool includes lactose and protein content; used for screening.
Chest X-ray may be normal initially; later shows increased areas of infection, overinflation, bronchial thickening and plugging, atelectasis, and fibrosis.
Pulmonary function studies (after age 4) show decreased vital capacity and flow rates and increased residual volume or increased total lung capacity.
Diagnosis is made when a positive sweat test is seen in conjunction with one or more of the following:
Positive family history of cystic fibrosis.
Typical chronic obstructive lung disease.
Documented exocrine pancreatic insufficiency.
Genetic screening may be done for affected families.

Pharmacologic Interventions:

Antimicrobial therapy as indicated for pulmonary infection.
Oral or I.V. antibiotics as required.
Inhaled antibiotics, such as gentamicin or tobramycin, may be used for severe lung disease or colonization of organisms.
Bronchodilators to increase airway size and assist in mucus clearance.
Pulmozyme recombinant human DNase (an enzyme) administered via nebulization to decrease viscosity of secretions.
Pancreatic enzyme supplements with each feeding.
Favored preparation is pancrelipase.
Occasionally, antacid is helpful to improve tolerance of enzymes.
Favorable response to enzymes is based on tolerance of fatty foods, decreased stool frequency, absence of steatorrhea, improved appetite, and lack of abdominal pain.
Gene therapy, in which recombinant DNA containing a corrected gene sequence is introduced into the diseased lung tissue by nebulization, is in clinical trials.

Nursing Interventions:

Monitor weight at least weekly to assess effectiveness of nutritional interventions.
Monitor respiratory status and sputum production, to evaluate response to respiratory care measures.
To promote airway clearance, employ intermittent aerosol therapy three to four times per day when the child is symptomatic.
Perform chest physical therapy three to four times per day after aerosol therapy.
Help the child to relax to cough more easily after postural drainage.
Suction the infant or young child when necessary, if not able to cough.
Teach the child breathing exercises using pursed lips to increase duration of exhalation.
Provide good skin care and position changes to prevent skin breakdown in malnourished child.
Provide frequent mouth care to reduce chances of infection because mucus is present.
Restrict contact with people with respiratory infection.
Encourage diet composed of foods high in calories and protein and moderate to high in fat because absorption of food is incomplete.
Administer fat-soluble vitamins, as prescribed, to counteract malabsorption.
Increase salt intake during hot weather, fever, or excessive exercise to prevent sodium depletion and cardiovascular compromise.
To prevent vomiting, allow ample time for feeding because of irritability if not feeling well and coughing.
Encourage regular exercise and activity to foster sense of accomplishments and independence and improve pulmonary function.
Provide opportunities for parents to learn all aspects of care for the child.
Teach the parents about dietary regimen and special need for calories, fat, and vitamins.
Discuss need for salt replacement, especially on hot summer days or when fever, vomiting, and diarrhea occur.