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Cystic Fibrosis

Cystic fibrosis is an heritable disease caused by an altered gene. It is the second most common life-shortening, childhood onset inherited disorder in the United States; behind sickle cell anemia. Approximately 30,000 people in the United States have Cystic fibrosis (CF). About 1,000 new cases of cystic fibrosis are diagnosed each year. Cystic fibrosis is characterized by the production of abnormally thick and sticky mucus which most frequently obstructs the lungs and pancreas. This lung obstruction makes breathing difficult and leads to progressive chronic and life-threatening lung infections. The pancreatic interference prevents normal digestion and leads to malnutrition.

  • Cystic fibrosis occurs most commonly among whites. It is estimated that 1 in 2,500 white births are affected in comparison to 1 in 13,500 Hispanics, 1 in 15,100 African Americans, and 1 in 31,000 to more than 100,000 Asians.
  • In 2005, 414 Americans died of cystic fibrosis, an age-adjusted death rate of 1.4 per million.
  • Changes in CF care since the early 1980’s have contributed to substantial improvements in measures of malnutrition, lung function, and mortality among children and adolescents with CF. Treatment of the disease has improved substantially over the past 25 years. The median age of survival in 2006 was 36.9 years compared to 25 years in 1985, 14 years in 1969 and five years in 1955.
  • The most common symptoms of CF include very salty-tasting skin, persistent coughing, wheezing or shortness of breathing, an excessive appetite but poor weight gain and greasy, bulky stools. Respiratory infections increase with age. The sweat test is the standard diagnostic test for CF.
  • More than 70 percent of patients are diagnosed by age two. In 2006, 44.6 percent of people in the Cystic Fibrosis Patient Registry were adults.
  • The annual treatment costs of cystic fibrosis in 1992 were approximately $10,000 per patient per year, but current estimates show an excess of $40,000 per year in direct medical costs and $9,000 per year secondary costs per cystic fibrosis patient.
  • The treatment of CF depends upon the stage of the disease and the organs involved. Chest physical therapy to clear mucus from the lungs is an important part of the daily CF treatment regimen. Other types of treatments include TOBI, an aerosolized antibiotic used to treat lung infections; Pulmozyme, a mucus-thinning drug shown to reduce the number of lung infections and improve lung function; and azithromycin, an antibiotic that improves the lung function of people with CF whose lungs are chronically infected with Pseudomonas aeruginosa bacteria, the most common cause of respiratory infection in people with CF.
  • Clinical trials have found that azithromycin has been shown to improve the lung function of CF patients.
  • The specific gene responsible for CF was identified in 1989. Since then more than 1,500 mutations and DNA sequence variations have been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene.
  • The Delta F508 mutation is the most common CF gene mutation and is found in almost all racial and ethnic groups. Delta F508 accounts for approximately 70 percent of all CF genes.
  • More than 10 million Americans are unknowing, symptomless carriers of the defective CF gene. An individual must inherit two defective CF genes – one from each parent – to have CF. Each time two carriers conceive, there is a 25 percent chance that their child will have CF; a 50 percent chance that the child will be a carrier of the CF gene; and a 25 percent chance that the child will be a non-carrier.
  • Cystic Fibrosis can be identified before birth through prenatal screening and after birth through newborn screening. In 2001, the American College of Obstetricians and Gynecologists recommended that pregnant women be offered screening for CFTR mutations. Currently, 20 percent of pregnant women in the United States receiving prenatal care are being screened for CF.
  • In 2004, the Centers for Disease Control and Prevention (CDC) issued a recommendation that all states should consider routine screening for CF in all newborns. A review of research on CF screening of newborns found that it offered significant benefits in improved growth, reduced morbidity for infection and better chest radiography appearance among CF patients.