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Etiology
CF is gentically transmitted as a mendelian recessive trait. About 80% of the gene mutations that cause cystic fibrosis (CF) have been identified. It is now known that the cystic fibrosis gene is on chromosome #7. It encodes a membrane-associated protein called the cystic fibrosis transmembrane conductance regulator (CFTR). The function of the CTFR is still unknown. However, it appears to be closely involved with chloride transport across the epithelial membranes. There are several different mutations of this gene that result in cystic fibrosis. The most common mutation is the absence of three base pairs in the DNA.This mutation is called delta F508. People with (CF) face many problems that include:
| Pulmonary problems: | chronic infections of the lung emphysema progressive respiratory insufficiency |
| Gastrointestinal problems: | pancreatic insufficiency intestinal obstruction continuing deficiency of pancreatic enzymes biliary tract obstruction(blockage of the bile system) constriction of the common bile duct cirrhosis of the liver |
| Heart problems: | cor pulmonale polycythemia |
| Reproductive problems: | 98% infertility in males |
