Cystic Fibrosis

• What is cystic fibrosis?

• A genetic disorder that is autosomal recessive that primarily affects the lungs and digestive system causing thickened mucus to build up in these organs

• What does cystic fibrosis cause?

• The mucus can block airways leading to respiratory problems and impede the digestive system resulting in malnutrition and other issues

• Is there a cure for cystic fibrosis?

• No but advancements in treatment and care have significantly improved life expectancy and quality of life for individuals

• What do patients with cystic fibrosis have abnormalities of?

• Salt

• Water

• Mucus making cells

• Who is known to get cystic fibrosis?

• Caucasian children

• When do most children get diagnosed with cystic fibrosis?

• Before the age of 1

• What is cystic fibrosis pathophysiology?

• Causes CFTR protein to become dysfunctional

• This causes not being able to hello move chloride (a component of salt)  to the cell surface

• Without chloride the mucus becomes sticky

• When mucus is sticky it leads to mechanical obstruction of organs

• What organs are affected by cystic fibrosis?

• Sinuses

• Lungs

• Skin

• Liver

• Pancreas

• Intestines

• Reproductive organs

• What are expected respiratory findings for cystic fibrosis?

• Decreased oxygen saturation

• Chronic hypoxia

• Dry non productive cough

• Wheezing

• SOB

• Loose productive cough

• Dyspnea

• Atelectasis

• Cyanosis

• Barrel shaped chest

• Clubbing fingers/toes

• Recurrent bronchitis/pneumonia

What are expected gastrointestinal findings for cystic fibrosis?

• Increased appetite (early) decreased appetite (later

• Steatorrhea

• Failure to gain weight/lose weight

• Vitamin deficiencies

• Meconium ileus

• Obstruction of bile ducts

• Frequent bowel obstructions

• Abdominal distention

• Constipation

• Reflux

• Rectal prolapse

• What are expected integumentary findings for cystic fibrosis?

Sweat, tears, and salvia have excessively HIGH sodium and chloride content (salty sweat)

• How is a sweat chloride test performed?

• Must hydrate before testing

• Electrical current stimulates sweat production

• Collect sweat from 2 sites

• What is a positive result of a sweat chloride test?

• Chloride greater than 40

• Sodium greater than 90

• What are expected endocrine/reproductive findings for cystic fibrosis?

• Hyperglycemia

• Hyponatremia

• Delayed puberty

• Decreased or absent sperm

• What are ways to diagnose cystic fibrosis?

• DNA testing

• Sweat chloride test

• Chest x-ray

• Pulmonary function tests

• Stool fat/enzyme analysis

• Duodenal analysis (asses pancreatic levels)

What are the treatment goals in cystic fibrosis?

• Prevent or minimize pulmonary complications

• Adequate nutrition for growth

• Assist in adapting to chronic illness

• What are ways to manage respiratory in cystic fibrosis?

• Airway clearance therapy

  • Vest airway clearance

  • Active cycle of breathing techniques

• Medications

  • Bronchodilators

  • Deoxyribonuclease

• Early and aggressive treatment of pulmonary infections

  • Home IV antibiotic therapy

  • Aerosolized antibiotics

• What are ways to manage GI in cystic fibrosis?

• Diet

  • Encourage oral fluid intake

  • High protein/high calorie diet

  • Administer vitamins A, D, E, and K

  • Add salt to food during hot water

• Avoid constipation

  • Laxatives and stool softeners

• Pancreatic enzymes

  • Within 30 minutes of eating ALL meals and snacks

  • Small child can sprinkle capsules on food/ NOT IN FORMULA  BOTTLE

  • Increase enzymes when eating high fat food

• What is the prognosis of cystic fibrosis and ways to prolong it?

• Consider transplant

  • Heart

  • Lung

  • Pancreas

  • Liver

• Estimated life expectancy is 44

• Maximize health potentials

• Palliative care for terminal stages

• New research

  • Hope for the future