What is Cystic Fibrosis? :: essays research papers

Your child is under weight, has greasy, smelly diarrhea, a chronic cough and seems to always be getting pneumonia. He wheezes when he breathes and has impaired exercise ability. He seems to never being growing to the average size of his peers and his skin is very salty (5). The doctor’s first instinct should be to test your child for a disease called cystic fibrosis. Cystic fibrosis is a disease, which causes the mucus in your body to be thicker in some areas. The most affected areas are the lungs and digestive system. As a result, the person may get chest infections and have difficulty digesting food. When cystic fibrosis is a consideration for a person’s disease the physician will do what is called a sweat test. This is a simple and cheap way to determine if your child has the disease. Because people who have cystic fibrosis (CF) have saltier sweat than others, the sweat test detects the amount of salt in the sweat of the individual (4). This is the best way to diagn ose a person with the disease (5).   Ã‚  Ã‚  Ã‚  Ã‚  CF is a genetic disease, meaning that a person does not â€Å"catch it†, it is inherited in the genes passed down to the person. Cystic fibrosis lasts with the patient for their whole life. This makes it a chronic disease, not communicable (9). All symptoms of CF are caused by a mutation to the single chromosome 7. This particular gene is responsible for the building of the protein called the cystic fibrosis trans membrane conductance regulator (CFTR). Normally, the gene regulates the passage of chloride ions in and out of the cell, but when mutated as in the case of CF patients the chloride ions cannot move throughout the cell membrane because the CFTR does not open. In about three- quarter of CF cases the CFTR is not just broken, but is completely missing from the cell. The missing CFTR has many effects on the human body. One is saltier sweat because as the sweat rises to the skin, cells reabsorb sodium and chloride molecules. The loss of the CFTR does no t allow the body to reabsorb the sodium ions making a CF patient’s sweat five times saltier than that of a normal person. This can lead to irregular heart rhythms. The loss of chloride ions affects the pancreas also. The loss of the CFTR ultimately makes it impossible for digestive enzymes to be sent to the intestines.