Cystic Fibrosis Case Study

Topics: Cystic fibrosis, Digestion, Cell Pages: 5 (857 words) Published: April 16, 2015
Christopher Smith

Miss Chiu

AP Bio CF Case Study

March 19, 2015


1. Currently, scientists believe that Cystic Fibrosis is caused by a defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have CF, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat. Every person inherits two CFTR genes—one from each parent. Children who inherit a faulty CFTR gene from each parent will have CF. Children who inherit one faulty CFTR gene and one normal CFTR gene are "CF carriers." CF carriers usually have no symptoms of CF and live normal lives. However, they can pass the faulty CFTR gene to their children. More than a thousand known defects can affect the CFTR gene. The type of defect you or your child has may affect the severity of CF.

3. In people with CF, there is an altered Chlorine channel and this Chorine channel cannot go out to the cell surface and then the cell cannot secrete water (due to the fact that Chlorine should go out of the cell and water should join the Chlorine in this movement), so the result is thick mucus and predisposition of infections. 4. Alvin has salt crystals forming on his skin due to the high content of sodium in his body, which is seen in his sweat after it dries. When there is little to no more liquid in his sweat, all that is left is the sodium crystals, which then become visible. 5. Three treatments that are recommended are regularly scheduled doctor visits and immunizations, respiratory therapy, and digestive therapy: Doctor Visits and Immunizations: In having regular appointments, a doctor will record the child's weight, height, and head size in order to keep track of how your child is developing over time. Having lab tests done for the child is something to consider, because lab tests can help the doctor know how serious the disease is and how it is affecting the child's body. The doctor will also ask about the child's immunizations and will schedule any shots that are needed. Children with cystic fibrosis should have all the recommended shots, plus pneumococcal shots.

Respiratory Therapy: Respiratory therapy includes any and all treatments that slow down lung damage and improves breathing. The purpose of respiratory therapy is to reduce infection and get rid of mucus to keep the lungs healthy. Medicines may be used in addition to that to control the amount and thickness of mucus. Digestive Therapy: Digestive Therapy works to replace certain digestive enzymes, to make sure the body absorbs all the vitamins and minerals it needs, and to prevent or treat intestinal blockages. Digestive therapy can involve any of the following methods: digestive enzyme replacement therapy to help the intestines absorb nutrients from food, nutritional therapy to help replace lost nutrients, and preventing intestinal blockages with stool softeners (to avoid constipation) and enemas. 6. – Israeli researchers have recently reported that an experimental drug that blocks the genetic flaw responsible for one form of cystic fibrosis has worked well in an early trial. If this method is as successful as it initially seems, it has the potential to prevent people from actually having Cystic Fibrosis and making a significant difference in the lives of many potential carriers of the faulty gene. - Currently, a new drug called VX-770 is being tested for the treatment of cystic fibrosis, with promising results. The drug specifically targets the protein that's responsible for cystic fibrosis. The protein (chloride channel protein), causes a door in the body to shut too tightly. Recent research shows that VX-770 is able to repair the protein, thus making the door in...
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