Diagnosis: Cystic fibrosis
• Cystic fibrosis (CF) is an autosomal recessive disorder. Carriers are generally unaffected.
• The most common problems are chronic respiratory infections and pancreatic enzyme deficiency.
• Endstage lung disease is the most common cause of death.
• Newborn screening for CF is offered throughout the United States.
• Nearly 1,900 mutations in the cystic fibrosis transmembrane regulator(CFTR) have been found; the most common mutation is deltaF508.