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Cystic fibrosis

Cystic fibrosis is a hereditary disease that causes certain glands to produce abnormal secretions, resulting in tissue and organ damage, especially in the lungs and the digestive tract.

  • Cystic fibrosis is caused by inherited genetic mutations that cause thick, sticky secretions to clog the lungs and other organs.
  • Typical symptoms include vomiting and abdominal bloating, loose stools, and poor weight gain in newborns, as well as coughing, wheezing, and frequent respiratory tract infections throughout life.
  • The diagnosis is based on sweat test results and/or genetic testing.
  • Half of the people with this disease live to their early 40s.
  • Treatments include antibiotics, bronchodilators, drugs to thin lung secretions, airway clearance treatments for respiratory problems, supplements of pancreatic enzymes and vitamins for digestive problems, and a drug to improve cystic fibrosis protein activity in people with certain mutations.
  • Some people benefit from lung transplantation.

Cystic fibrosis is the most common inherited disease leading to a shortened life span among Caucasian people. In the United States, it occurs in about 1 of 3,300 white infants and in 1 of 15,300 african american infants. It is rare in Asians. Because improvements in treatment have extended life expectancy for people with cystic fibrosis, about 50% of people in the United States with this disease are adults. Cystic fibrosis is equally common among boys and girls.

Treatment

  • Routine immunizations
  • Antibiotics, inhaled drugs to thin airway secretions, and airway clearance techniques
  • Drugs that help prevent airways from narrowing (bronchodilators) and sometimes corticosteroids
  • Pancreatic enzyme supplements
  • High-calorie diet
  • In people with specific mutations, ivacaftor or an ivacaftor/ lumacaftor combination