Resources

• John Hopkins Cystic Fibrosis Center
• Cystic Fibrosis Foundation
• National Institute of Health (National Heart, Blood, and Lung Institute)
• American Lung Association
• Cystic Fibrosis Research, Inc.
• The American Academy of Pediatrics
• Journal of Cystic Fibrosis
• European Cystic Fibrosis Society  

Quick Facts

In the United States:

• About 1,000 new cases of CF are diagnosed each year.
   
• More than 75 percent of people with CF are
  diagnosed by age 2.
   
• Nearly half of the CF population is age 18 or older.

Cystic fibrosis (CF) is a life-threatening genetic disease that primarily affects the lungs and digestive system. An estimated 30,000 children and adults in the United States (70,000 worldwide) have CF.

In people with CF, a defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:

• Clogs the lungs and leads to life-threatening lung infections.
   
• Obstructs the pancreas and stops natural enzymes from helping the body break down food and absorb vital nutrients.

Cystic Fibrosis

In North America, cystic fibrosis affects some 30,000 individuals. There are approximately 1,000 new cases of CF diagnosed every year, with “70% of affected children…diagnosed by age 2 years. The disease itself is a genetic disease that results from “genetic mutations located on chromosome 7q31.2, which codes for a protein known as the cystic fibrosis transmembrane conductance regulator (CFTR). The mutations of the CFTR protein prevent or inhibit a cell’s ability to release chloride, which leads to “the production of thick, sticky mucus in specific organs,” affecting primarily “the skin, pancreas and lungs.” The production of such mucus leads to infection, inflammation, and damage within the lungs, as well as the “malabsorption of essential nutrients” caused by the pancreas’s “inability to produce enzymes, the chemicals that digest food.” 

Fortunately, the prospects of living with CF have greatly improved since the disease was first described in 1938. Indeed, whereas the life expectancy of a child with CF in 1938 was less than two years, we are now witnessing individuals living well-into adulthood.  In fact, as Drs. Paranjape and Mogayzel suggest: 

Overall, survival is improving for individuals affected with CF. Treatment goals include early diagnosis, screening, and treatment of the disease and its associated manifestations toward optimizing pulmonary function and nutritional status. Pharmacologic interventions, including the newer, mutation-specific therapies, have had a profound effect on the overall health and well-being for individuals with CF. Effective communication among primary care physicians, subspecialists, and the patient and family are paramount to maintaining optimal health and quality of life.