Cystic Fribrosis

Fighting to Breath

Pathophysiology:

Cystic Fibrosis (CF), is a genetically inherited disease. The defected gene, protein transmembrane conductance regulator (CFTR), functions as a chloride channel. The mutation of this gene results in abnormalities of chloride transport across epithelial cells on mucosal surfaces. The mutation causes decreased secretion of chloride and reabsorption of sodium resulting in mucosal dehydration leading to thick sticky mucus. This promotes an increase in infections and inflammation. CF causes damage to digestive and respiratory sytems'.

Etiology:

For someone to get CF both parents must carry a defective gene. The child has to inherit two defective copies of the CFTR gene, one from each parent. Boys and girls are equally likely to inherit the mutated gene.

Risk Factors:

Family History places an important role in an increased risk of having cystic fibrosis.

It occurs in all races but more prevalent in whites of Northern European ancestry.

There is no prevention of CF.

Treatment:

There is no cure for cystic fibrosis, but treatment can ease symptoms and reduce complications. Treatment should be aggressive and daily. Treatments include:


Medications:

bronchodilators

mucolytics

antibiotics


Chest Physiotherapy:

mechanical percussor

high-frequency chest wall oscillation (HFCWO) vests


Diet/Nutrition

Exercise

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