Posts Tagged ‘cystic fibrosis cause’

Cystic fibrosis

Friday, February 26th, 2010

This is one of the most common genetic diseases.

Genetic Aspect
Cystic fibrosis gene located on chromosome 7, encodes the first membrane protein called CFTR conditioning the quality of ion exchange between the glands and the lumen of the bronchus, but also upper respiratory tract, pancreas, digestive tract, the bile ducts.

Respiratory Events
Especially during the first year of life.
Then shift to attacks (super infection) characterized. Worsening respiratory symptoms with impaired general condition.
The bacterial colonization of the trachea bronchial tree is most often initially with Staphylococcus aureus or Haemophilus influenzae.
Then move to the pyocyaneus (very virulent, almost inaccessible to ATB and defense mechanisms).

Extra Respiratory Events

  • Pancreatic disease (90% of cases)
  • Intestinal
  • Hepatobiliary
  • Nutritional disorders:
    • maldigestion of fat
    • increased energy needs related respiratory disability.
  • Genital Event:
  • delayed puberty
  • infertile men (95% of cases)
  • decreased fertility in women (but may have children with a risk of having a child with ΒΌ: genetic counseling mandatory).


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