CYSTIC FIBROSIS

  • An inherited disorder that causes severe damage to the lungs and digestive system.
  • Affects the cells that produce mucus, sweat and digestive juices which are normally thin and slippery.
    • In people with the disease, a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.
  • Although cystic fibrosis requires daily care, people with the condition are able to attend school and work, and have a better quality of life than in previous decades. Improvements in screening and treatments mean most people with cystic fibrosis now live into their 20s and 30s, and some are living into their 40s and 50s.
  • Screening of newborns for cystic fibrosis is now performed in all 50 states. As a result, the condition can be diagnosed within the first month of life, before symptoms develop. For people born before newborn screening was performed, it’s important to be aware of the signs and symptoms of cystic fibrosis.
  • Signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not experience symptoms until adolescence or adulthood.
  • People with cystic fibrosis have a higher than normal level of salt in their sweat. Parents often can taste the salt when they kiss their children. Most of the other signs and symptoms of cystic fibrosis affect the respiratory system or the digestive system. However, adults with cystic fibrosis are more likely to have atypical symptoms, such as pancreatitis, diabetes and infertility.

Symptoms may involve the following:

Respiratory signs and symptoms:

  • A persistent cough that produces thick (sputum) mucus
  • Wheezing
  • Breathlessness
  • Exercise intolerance
  • Repeated lung infections
  • Inflamed nasal passages or a stuffy nos

Digestive signs and symptoms:

  • Foul-smelling, greasy stools
  • Poor weight gain and growth
  • Intestinal blockage, particularly in newborns (meconium ileus)
  • Severe constipation

Frequent straining while passing stool can cause part of the rectum — the end of the large intestine — to protrude outside the anus (rectal prolapse). When this occurs in children, it may be a sign of cystic fibrosis. Parents should consult a physician knowledgeable about cystic fibrosis. Rectal prolapse in children may require surgery.

DIAGNOSIS

  • Physician may do/request:
    • History & Physical Exam
  • Other additional tests such as:
    • Blood tests
    • Sweat test
    • Genetic testing

 

RECOMMENDED MEDICATIONS

  • There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications. Close monitoring and early, aggressive intervention is recommended.
  • The goals of treatment include:
    • Preventing and controlling lung infections.
    • Loosening and removing mucus from the lungs.
    • Preventing and treating intestinal blockage.
    • Providing adequate nutrition.
  • Drugs to be given include:
    • Antibiotics to treat and prevent lung infections.
    • Mucus-thinning drugs to help you cough up the mucus, which improves lung function.
    • Bronchodilators to help keep your airways open by relaxing the muscles around your bronchial tubes.
    • Oral pancreatic enzymes to help your digestive tract absorb nutrient.
  • Chest physical therapy
  • Pulmonary rehabilitation
  • Surgical and other procedures
    • Nasal polyp removal
    • Oxygen therapy
    • Endoscopy and lavage
    • Feeding tube
    • Bowel surgery
    • Lung transplant

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