Cystic Fibrosis Case Study Essay

Patient A is a 3 month old caucasian female. Her parents have noticed that she tasted salty when they kissed her. She is not gaining weight and is not growing at a normal rate. She has a persistent cough and foul smelling stool along with constipation. The only notable occurrence in her family history is a great-aunt who died of respiratory disease at 20 years old. Test results have shown high levels of sodium and chloride in her sweat. Patient A has Cystic Fibrosis, which is shown by her respiratory and digestive system symptoms. Cystic Fibrosis is a genetic mutation that mutates the cystic fibrosis transmembrane conductance regulator protein(CFTR). When CFTR is working properly, it allows chloride to leave the cell and create a balance between the amount of chloride and water to reach homeostasis. This balance of substances is crucial to making sure that mucus is thin and slippery. Normally, mucus in the lungs traps germs, which are then cleared out of the lungs (The Nemours Foundation, 2016). While in the pancreas, it carries important digestive enzymes for the digestive system. Being an important part of both systems to ensure that they both carry out their duty. Having the enzymes balanced throughout the entire digestive system, instead of them being mainly
All of the symptoms lead to the disease being CF. Along with information that a great-aunt who died of a respiratory disease that could have been related to CF. Unfortunately, the average lifespan of people living with CF is mid to late 30s. There is no cure yet for CF, but there are treatments to help those with it. Doctors recommend having those with CF treated early to help. Doctor try to prevent infections, blocks, and removing mucus from the lungs. They also will help with diet and give medications that they see important to help the patient live as long as