A defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat.
Research suggests that the CFTR protein also affects the body in other ways. This may help explain other symptoms and complications of CF.
More than a thousand known defects can affect the CFTR gene. The type of defect you or your child has may affect the severity of CF. Other genes also may play a role in the severity of the disease.
Every person inherits two CFTR genes—one from each parent. Children who inherit a faulty CFTR gene from each parent will have CF.
Children who inherit one faulty CFTR gene and one normal CFTR gene are "CF carriers." CF carriers usually have no symptoms of CF and live normal lives. However, they can pass the faulty CFTR gene to their children.
The image below shows how two parents who are both CF carriers can pass the faulty CFTR gene to their children.
Clinical trials are research studies that explore whether a medical strategy, treatment, or device is safe and effective for humans. To find clinical trials that are currently underway for Cystic Fibrosis, visit www.clinicaltrials.gov.
Visit Children and Clinical Studies to hear experts, parents, and children talk about their experiences with clinical research.
October 19, 2012
NHLBI launches program on early cystic fibrosis lung disease
Researchers will study pre-symptomatic lung disease in infants and young children with cystic fibrosis (CF), under a new grant program of the National Heart, Lung, and Blood Institute (NHLBI). Results could reveal how CF develops, which in turn could lead to interventions that delay or prevent disease progression. The studies also could provide critical information to help resolve competing theories on the origin and progression of CF-associated abnormalities
The NHLBI updates Health Topics articles on a biennial cycle based on a thorough review of research findings and new literature. The articles also are updated as needed if important new research is published. The date on each Health Topics article reflects when the content was originally posted or last revised.