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Cystic fibrosis
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Overview
Cystic fibrosis (CF) is an inherited condition that causes mucus to build up and clog some of the organs in the body, particularly in the lungs and pancreas. When mucus clogs the lungs, it can make breathing very difficult. The thick mucus also causes bacteria to get stuck in the airways, which causes inflammation and infections. These infections can cause chronic coughing, and wheezing. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Mucus can also block the digestive tract and pancreas, leading to digestive problems. CF is caused by mutations in the CFTR gene and is inherited in an autosomal recessive pattern.[1]
References
- Cystic Fibrosis . Genetic Home Reference Web site. http://ghr.nlm.nih.gov/condition/cystic-fibrosis. Accessed August 23, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center7 question(s) from the public on Cystic fibrosis have been answered. See questions and answers. You can also submit a new question.
General Information
- The March of Dimes (MOD) has a fact sheet on Cystic Fibrosis. Visit the MOD hyperlink to learn more.
- Genetics Home Reference (GHR) contains information on Cystic fibrosis. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The National Human Genome Research Institute (NHGRI) created the Talking Glossary of Genetic Terms to help people without scientific backgrounds understand the terms and concepts used in genetic research. Click on the NHGRI link to learn more about cystic fibrosis.
- The National Heart Lung and Blood Institute (NHLBI) provides comprehensive information about Cystic Fibrosis. Click on the NHLBI link to find this information.
- The National Institutes of Health has a Health Topic page on Cystic fibrosis. Click on National Institutes of Health to view the information page.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Cystic fibrosis. Click on the link to view a sample search on this topic.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents. To view this fact sheet, click on the link.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Cystic fibrosis. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- In 2002, the American College of Medical Genetics (ACMG) Cystic Fibrosis (CF) Carrier Screening Working Group, as part of an ongoing effort to ensure that the cystic fibrosis carrier screening programs are current, initiated a review of the scientific literature and other available data and practices. The Working Group summarized its major recommendations with the supporting justification for these decisions in an article by Watson et al. titled "Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics." To access this policy statement, visit the link above.
- Sims, et al. Cystic Fibrosis Diagnosed After 2 Months of Age Leads to Worse Outcomes and Requires More Therapy. Pediatrics. 2007;119:19-28.
Basic Information
- The American College of Obstetricians and Gynecologists (ACOG) published an education pamphlet on cystic fibrosis titled "Cystic Fibrosis: Prenatal Screening and Diagnosis."