Genetic Disorders: Cystic Fibrosis

Introduction The genetic autosomal recessive disorder known as Cystic Fibrosis (CF) effects on average 1 of 28 Caucasians. The average age for patients to be diagnosed with this genetic disorder is around 2 weeks and 2 years old, there are some cases where they are find out sooner and others when they are adults. CF affect the patient’s chloride channels which causes the mucus in their lungs to thicken and pool. It can also affect the pancreas by blocking it up and not allowing it to produce digestive enzymes. With medicine in today’s day and age patients are living longer lives then when it was first diagnosed. Treatment options like the Vest is helping to break down the mucus build up in lungs and digestive enzymes to help process nutrients …show more content…
Both of the parents have to be heterozygous which means that they are one part dominant and one part recessive. This means that they have a 25% chance of having a child with CF. Cystic Fibrosis is a genetic disorder that affects multi organs of the body, but most commonly it affects the lungs the most. Respiratory tract infections are the most common infection that occurs in patients that have CF. The biggest thing with the respiratory tract infections is that as the years pass the person’s lung function starts to deteriorate, as the infection reocur. Common symptoms are chronic coughing, recurring chest colds, wheezing, and shortness of breath. The main reason that they have respiratory tract infections is because they have a problem with mucus control in their respiratory tract. This can cause a lot of problems if the mucus isn’t removed. For example the mucus can pool in the lungs and it is also a perfect environment for bacteria to grow. Normally the mucus would be alleviated through the cilia, but because of all the back up of mucus it becomes clogged. Making it that much harder to remove the mucus. The main malfunction of CF is the Chloride channels, they do not function properly because of an excess of chloride in the body. Chloride in the lungs is what controls the mass and consistency of the mucus in the lungs. …show more content…
Signs and Symptoms that a patient has CF happen at a young age of 1-2 years old, is when most patients are diagnosed. They are seen to have trouble breathing, coughing, and salty sweat. Later on in life they will have symptoms like lung infections, coughing, wheezing, trouble digesting food, and fatty feces. Direct results of CF is the nonfunctional chloride channels, which causes the thickening of mucus in the lungs and the blocking of the pancreatic ducts. Indirect results of CF are respiratory infection, due to the thick mucus that pools in the lungs that can collect bacteria. Malnutrition is caused because the pancreas is blocked causing a lack of digestive enzymes, making it harder to absorb nutrients (Vilozni, Lavie, Ofek, Sarouk, & Efrati,