What Is Cystic Fibrosis (CF)?

Cystic fibrosis is an inherited disease that affects the respiratory and digestive systems.

What Causes CF, Who Is Affected and What Are The Risks?

Cystic fibrosis affects the exocrine (mucus and sweat) glands of the body and is caused by a defective gene. Thick mucus is formed in the bronchial tree which predisposes the person to chronic lung infections. Many pancreatic enzymes involved in the breakdown and absorption of fats in the intestine are absent causing malabsorption (inadequate absorption of nutrients from the intestinal tract) and malnutrition. About one in 2500 Caucasians is affected and one in 25 is a carrier of the cystic fibrosis gene. It is the most common cause of chronic lung disease in children and young adults, and the most common fatal hereditary disorder affecting Caucasians in the US. Risk factors include a family history of cystic fibrosis or unexplained infant death. The incidence in adults is 2 out of 10,000 people.

Prevention

Screening of family members of a cystic fibrosis patient may detect the cystic fibrosis gene in up to 75% of carriers.

Treatment

Early recognition of cystic fibrosis and a comprehensive, multidisciplinary treatment program can lengthen survival time and improve the quality of life. Speciality clinics for cystic fibrosis are present in many communities. Medications include antibiotics for respiratory infections and pancreatic enzymes to replace the missing enzymes. Various types of nebulized medications such as albuterol may be used on occasion to thin secretions. Other treatments include postural drainage and chest percussion, and other breathing treatments. Lung transplant may be considered in some cases.

Expectations (prognosis)

About half of the children with cystic fibrosis live beyond age 20. Few live beyond 35. Death occurs from pulmonary (lung) complications.