![]() ![]() These conditions include bronchiectasis, which damages the passages leading from the windpipe to the lungs (the bronchi), and allergic bronchopulmonary aspergillosis, which results from hypersensitivity to a certain type of fungal infection. Other respiratory problems, including several conditions that partially block the airways and interfere with breathing, are also associated with CFTR mutations. This condition causes sinus pain and pressure, headache, fever, and nasal congestion or drainage. ![]() Although CFTR mutations may be a risk factor, the cause of idiopathic pancreatitis is unknown.Ĭhanges in the CFTR gene also have been associated with rhinosinusitis, which is a chronic inflammation of the tissues that line the sinuses. For example, CFTR mutations have been found in some cases of idiopathic pancreatitis, an inflammation of the pancreas that causes abdominal pain, nausea, vomiting, and fever. More About This Health ConditionĪ few mutations in the CFTR gene have been identified in people with isolated problems affecting the digestive or respiratory system. The abnormal mucus obstructs the airways and glands, leading to the characteristic signs and symptoms of cystic fibrosis. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is abnormally thick and sticky. All of these changes prevent the channel from functioning properly, which impairs the transport of chloride ions and the movement of water into and out of cells. The resulting abnormal channel breaks down shortly after it is made, so it never reaches the cell membrane to transport chloride ions.ĭisease-causing mutations in the CFTR gene alter the production, structure, or stability of the chloride channel. The most common mutation, called delta F508, is a deletion of one amino acid at position 508 in the CFTR protein. Most of these mutations change single protein building blocks (amino acids) in the CFTR protein or delete a small amount of DNA from the CFTR gene. More than 1,000 mutations in the CFTR gene have been identified in people with cystic fibrosis. ![]() Men with congenital bilateral absence of the vas deferens are unable to father children (infertile) unless they use assisted reproductive technologies. Without the vas deferens, sperm cannot be transported from the testes to become part of semen. This mucus clogs the tubes that carry sperm from the testes (the vas deferens) as they are forming, causing them to deteriorate before birth. As a result, cells in the male genital tract produce mucus that is abnormally thick and sticky. Mutations in the CFTR gene disrupt the function of the chloride channel, preventing the usual flow of chloride ions and water into and out of cells. Some affected males have a mild mutation in one copy of the CFTR gene in each cell and a more severe, cystic fibrosis-causing mutation in the other copy of the gene. These mutations allow the CFTR protein to retain some of its function. Most affected males have a mild mutation in at least one copy of the gene in each cell. Congenital bilateral absence of the vas deferensĪbout 80 CFTR mutations have been identified in males with congenital bilateral absence of the vas deferens. ![]()
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