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Cystic Fibrosis Transmembrane Regulator (CRTF)

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Cystic Fibrosis is an inherited disorder involving fluid secretion by the exocrine glands in the epithelial lining of the respiratory, gastrointestinal, and reproductive tracts (Porth, 2011, p.584). The cystic fibrosis transmembrane regulator (CRTF) gene helps in the regulation of chloride through the epithelial membrane of the cells. A mutation in the CRTF gene causes impaired transport of chloride which increases sodium absorption and water into the blood. Once water moves into the blood it lowers the amount of water of the mucociliary blanket of the respiratory epithelium. Thus, the mucociliary function to not work and secretions (or thick mucus) to build up and block up airways (Porth, 2011, p.585). Those who are affected by Cystic Fibrosis …show more content…

One might experience respiratory signs and symptoms caused by the blocking of air passages and lungs with thick mucus such as repeated lung infections (pneumonia or bronchitis), wheezing or shortness of breath. One might also experience digestive signs and symptoms such as those mentioned in the CRTF.INFO.’s website informational article, gastrointestinal tract problems such as congenital Meconium ileus and distal intestinal obstruction syndrome, are caused by the decrease in chlorine and water secretion into the gut. These problems can play a factor in Cystic Fibrosis patient inability to absorb the vital nutrients they need. Also included is the buildup of digestive enzymes and digestion of its own tissues in the pancreas created by the thickening of exocrine secretions that block the pancreatic ducts intestinal blockage which results in bowel movement problems like diarrhea, gas, and abdominal pain. Not only can Cystic Fibrosis affect the pancreas and gastrointestinal tract but also the liver’s secretions. In small cases, the liver’s bile can become thick and cause build up and blockage in the hepatic ducts which can result in liver diseases and even cirrhosis. Some other common symptoms include above normal amount of salt in the person’s sweat and male

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Delta F508 is the most common mutation in cystic fibrosis. In the Delta F508, “a deletion of one amino acid at position 508 in the CFTR protein results in abnormal channel break downs shortly after it is made, so it never reaches the cell membrane to transport chloride ions” (Genetics Home Reference, 2008). Due to the inability of the cells to release the chloride, the outcome will be an imbalance in salt in the cells. This is what creates the thick and sticky mucus that causes many of the symptoms of cystic

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Cystic fibrosis (CF) is a genetic disease that affects secretory glands throughout the body, gravely affecting the respiratory system and other systems. A body affected by CF produces unusually thick and sticky mucus that creates infection and accumulates in various pathways (Grossman and Grossman, 2005). This is caused by a defect in a membrane protein called the Cystic Fibrosis Transmembrane Regulator (CFTR), which is due to a mutation in the CFTR gene (Freedman and O’ Sullivan, 2009). The CFTR protein is an ATP-dependent ion channel that allows the movement of chloride ions across epithelial cells, helping to maintain fluid balance via osmosis (Miller et al., 2005). In a mucus-producing cell, the CFTR protein allows chloride ions to enter

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