Cystic Fibrosis (CF)

• One of the most common grave genetic (inherited) diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up
• Complications of mucus build-up:
  • accumulation of mucus can impair the pancreas and hormone release
  • secondarily, the intestine
  • Mucous build-up in lungs tends progressively to impair respiration
  • Without treatment, CF results in death for 95% of affected children before age 5
• However, with diligent medical care patients with CF are surviving even beyond middle age.
• Early diagnosis of CF is of great importance. Early and continuing treatment of CF is essential for long-term survival. However, as more people with CF survive childhood, new problems are emerging
  • For example, 68% of 75 adult women with CF reported leakage of urine within the past year.
    • Coughing, sneezing, laughing and airway clearance provoked the leakage, which was worse when their chest disease was most severe.
• CF is caused by mutations in a gene called CFTR (for the cystic fibrosis conductance regulator), which is located on chromosome 7.
• CF is inherited in an autosomal recessive manner and affects both boys and girls
  • One in 400 white couples is at risk for having children with CF and their risk with each pregnancy is 1 in 4, so (multiplying 1 in 400 times 1 in 4) the overall risk that their child will have CF is 1 in 1600
    • Note that once a couple has had a CF child, the risk that each of their subsequent children will have CF drops to 1 in 4 (25%).

Treatment:

• physical therapy to loosen the mucus in the lungs, pancreatic enzymes
• medications to fight dangerous infections of the lungs