Cystic Fibrosis
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What is cystic fibrosis?Cystic fibrosis is an inherited disease of the mucus glands that affects many body systems. In particular, this disorder causes progressive damage to the respiratory system and chronic digestive system problems. Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can obstruct the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Most people with cystic fibrosis also have digestive problems because thick, sticky mucus interferes with the function of the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels) and enzymes that help digest food. Mucus blocks the ducts of the pancreas, preventing these enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. Some babies with cystic fibrosis have meconium ileus, a blockage of the intestine that occurs shortly after birth. Men with cystic fibrosis are often unable to father a child (infertile) because the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly. Infertility is also possible, though less common, in women with cystic fibrosis. How common is cystic fibrosis?Cystic fibrosis is a common genetic disease in the Caucasian (white) population in the United States. The disease occurs in about 1 in 3,200 Caucasian newborns. Cystic fibrosis is less common in other ethnic groups, affecting 1 in 15,000 African Americans and 1 in 31,000 Asian Americans. What genes are related to cystic fibrosis?Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. The flow of chloride ions helps control the movement of water in tissues and regulates the fluid consistency of mucus. Mutations in the CFTR gene disrupt the normal function of this channel, preventing the usual flow of chloride ions and water. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is abnormally thick and sticky. This mucus obstructs the airways and glands, causing the characteristic signs and symptoms of cystic fibrosis. Other genetic and environmental factors likely influence the course of the condition. For example, mutations in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others. Most of these genetic changes have not been identified, however. How do people inherit cystic fibrosis?This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not show signs and symptoms of the disorder.
Source: National Institutes of Health
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Free Cystic Fibrosis Articles |
- Studies from University of Milan, Department of Pediatrics have provided new data on life sciences
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- Cynthia J. Michaud, MD, CIA, CFE, Named 2007-2008 Cambridge Who's Who Executive of the Year in Healthcare, Auditing, Forensics and Investigative Services
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Studies from Hospital for Sick Children, Division of Respiratory Medicine have provided new information about gene therapy
2007 NOV 12 -- New research, 'New pulmonary therapies for cystic fibrosis,' is the subject of a report. According to a study from Toronto, Canada, "Improved knowledge of the molecular mechanisms underlying cystic fibrosis has led to a wide spectrum of new treatment approaches. This review addresses recent therapeutic strategies that either target the underlying defect or early steps in cystic fibrosis pathophysiology While gene therapy does not appear to be a therapeutic option in the near future, cystic fibrosis transmembrane regulator pharmacotherapy is currently being developed as an alternative to reduce cystic fibrosis transmembrane regulator degradation or improve its function." "Two drugs that increase chloride secretion via an alternative chloride channel, Moli1901 and denufosol, have been shown to be safe in clinical studies that also suggested clinical efficacy. Osmotic therapy may be an alternative approach to increase airway surface liquid and is being studied as an early intervention strategy The spectrum of treatments for cystic fibrosis lung disease is rapidly increasing," wrote F. Ratjen and colleagues, Hospital for Sick Children, Division of Respiratory Medicine. The researchers concluded: "While clinical efficacy for most of the compounds still has to be proven in large clinical trials, there is considerable hope that cystic fibrosis therapy will move from addressing the downstream sequelae of the cystic fibrosis transmembrane regulator defect to a more causal approach in the near future." Ratjen and colleagues published the results of their research in Current Opinion In Pulmonary Medicine (New pulmonary therapies for cystic fibrosis. Current Opinion In Pulmonary Medicine, 2007;13(6):541-6). For additional information, contact F. Ratjen, Hospital for Sick Children, Division of Respiratory Medicine, Toronto, Canada. The publisher of the journal Current Opinion In Pulmonary Medicine can be contacted at: Lippincott Williams & Wilkins, 530 Walnut St., Philadelphia, PA 19106-3621, USA. Keywords: Canada, Toronto, Biotechnology, Cystic Fibrosis, Fibrosis, Gene Therapy, Genetics, Genomics, Hepatology, Lung Disease, Pharmaceuticals, Pulmonology, Respiratory Distress Syndrome, Treatment. This article was prepared by Biotech Business Week editors from staff and other reports. Copyright 2007, Biotech Business Week via NewsRx.com.
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