What is cystic fibrosis (CF)?

Updated: Oct 30, 2018
  • Author: Girish D Sharma, MD, FCCP, FAAP; Chief Editor: Kenan Haver, MD  more...
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Answer

Cystic fibrosis (CF) is the most common lethal inherited disease in white persons. [4] Cystic fibrosis is an autosomal recessive disorder, and most carriers of the gene are asymptomatic.

Cystic fibrosis is a disease of exocrine gland function that involves multiple organ systems but chiefly results in chronic respiratory infections, pancreatic enzyme insufficiency, and associated complications in untreated patients (see Clinical). Pulmonary involvement occurs in 90% of patients surviving the neonatal period. End-stage lung disease is the principal cause of death.

The diagnosis of cystic fibrosis is based on typical pulmonary manifestations, GI tract manifestations, a family history, and positive sweat chloride test results (see Workup). Newborn screening for cystic fibrosis is universally offered in the United States. As a result of the complex and multisystemic involvement of cystic fibrosis and the need for care by specialists, treatment and follow-up care at specialty centers with multidisciplinary care teams (ie, cystic fibrosis centers) is recommended (see Treatment).


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