Cystic Fibrosis


  • Cystic Fibrosis is a genetic disorder in which the body produces abnormally thick mucus in the lungs and intestines. It causes severe damage to the lungs, digestive system and other organs in the body, making it hard to breathe and digest food.
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Discovery
  • The Swiss pediatrician Guido Fanconi first named the disease in 1936, when he refers to it as cystic fibrosis with Bronchiectasis.
  • A profile published in 1938 by Dr. Dorothy Hansine Andersen provided the first description of this disorder.
  • It was discovered in 1949 also by Dr. Anderson, that cystic fibrosis was caused by a recessive mutant gene

Symptoms
  • In people with cystic fibrosis, a defective gene causes the secretions to become sticky and thick. The secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.
  • Respiratory: shortness of breath, wheezing, pulmonary hypertension, cough (with blood or phlegm), repeated lung infections
  • Developmental: delayed development, delayed puberty, or slow growth
  • Other symptoms: fatigue, inability to exercise, hard to digest food, salty sweat, infection, pain in the abdomen
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Ages it can begin
  • Some people may not experience symptoms until adolescence or adulthood
  • Screening of newborns for cystic fibrosis is now performed in every state in the United States. As a result, the condition can be diagnosed within the first month of life, before the symptoms develop
  • It is estimated that people with cystic fibrosis usually live up to their 30s-50s

Treatable?
  • There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications
  • Cystic fibrosis is the most common fatal genetic disease affecting children and young adults
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Inheritance pattern/Genetics
  • Cystic fibrosis runs in families in an autosomal recessive pattern
  • An inherited disease caused by mutations in a gene on chromosome 7
  • A deletion mutation of three nucleotides that results in a loss of the amino acid phenylalanine
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Environmental Factors
  • There are environmental factors that aggravate symptoms to cystic fibrosis
  • Inhaled pollutants (passive smoking)
  • Exposure to opportunistic microorganisms
  • Adherence to treatment and level of care, stress
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Common?
  • A common genetic disease among the white population in the United States
  • This disease occurs in 1 in 2,500 to 3,500 white newborns
  • It is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans
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Testing
  • A complete diagnostic evaluation includes:
    • A newborn screening
    • A sweat chloride test
    • A genetic/carrier test
    • A clinical evaluation at a cystic fibrosis Foundation-accredited care center
  • For people born before newborn screening was performed, it is important to be aware of the signs and symptoms of cystic fibrosis


Work Citations
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700
www.cysticfibrosis.ca/about-cf/what-is-cystic-fibrosis
https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/...treatment/drc-20353706
https://cysticfibrosisnewstoday.com/cystic-fibrosis-genetics/
http://www.cftr.info/about-cf/cftr-mutations/the-correlation-between-cftr-mutations-and-disease-severity/environmental-factors/
https://ghr.nlm.nih.gov/condition/cystic-fibrosis
https://www.cff.org/What-is-CF/Testing/
https://www.cff.org/What-is-CF/Genetics/Types-of-CFTR-Mutations/