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Welcome, medical contents search April 26, 2013
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Cystic Fibrosis

more about Cystic Fibrosis

  • Cystic fibrosis is a genetic disease that causes mucous-secreting glands to produce abnormal secretions, resulting in improper lung tissue lubrication and subsequent damage.
  • The mucous in patients with cystic fibrosis tends to be very thick, making it impossible for the lungs to be cleared properly of bacteria.  This invites multiple infections (bronchitis, Pneumonia, bronchiectasis), atelectasis (collapse of lung tissue), and lung scarring.
  • Cystic fibrosis is a very serious illness in which only about half of those affected live past 20 years of age.  It is the most commonly inherited disease leading to death among the white population of the U.S.

  • Failure to pass meconium within first 24-48 hours of life (abdominal distention, emesis)
  • Frequent, bulky, greasy stools and poor weight gain due to pancreatic problems
  • Constant lung infections
  • Infertility
  • Cough
  • Fatigue on exercise
  • Decreased muscle mass
  • Poor growth
  • Delayed maturation
  • Epigastric pain
  • Pallor due to hemolytic anemia
  • Bleeding problems
  • Night blindness
  • Delayed sexual development
  • Salty taste when you kiss the child

  • Examination:
    1. Clubbed fingers
    2. Chest is widened front-to-back
    3. Lung exam has crackles
    4. Nasal polyps
    5. Tenderness in right upper abdomen
  • Laboratory findings:
    1. Arterial blood gas shows decreased oxygenation
    2. Pulmonary function test shows decreased lung function.
    3. Sweat test shows elevated chloride.
    4. Pancreatic function tests are abnormal.
  • Imaging:
    1. Chest X-rays reveal increased interstitial markings, atelectasis 
    2.  CAT scan may be abnormal
  • Newborn screening:

- Immunoreactive trypsinogen in blood (95% sensitive)

  • Cystic fibrosis centers and specialists are needed for treatment.
  • Antibiotics for infections (may have complicated infections)
    1. Inhaled aerosol (saline) solutions
    2. Bronchodilators such as albuterol
    3. Prednisone may be used
    4. Recombinant human deoxyribonuclease thins the secretions
  • Chest physiotherapy (chest "pounding" and massage to promote clearing secretions)
  • Pneumonia vaccine every five years
  • Influenza vaccine yearly
  • Proper nutrition
  • Genetic counseling

  • This is a very serious illness in which only about half of the individuals with this disease live past 20 years of age.

more about Cystic Fibrosis

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