Topic > An Overview of Cystic Fibrosis

Cystic fibrosis (CF) is a recessive genetic disease that affects the lungs and liver. Cystic fibrosis develops when there is a mutation in the gene because it is autosomal recessive, meaning you would inherit two copies of the CFTR gene, one from each parent. The symptoms of cystic fibrosis are that the patient becomes prone to lung infections and persistent cough. This occurs because the cilia are able to get rid of mucus, as they are thick and sticky. Additionally, digestion problems occur because the patient becomes underweight. This basket square shows two parents who carry the cystic fibrosis allele. If these parents decide to have children there is a ¼ chance that the child will inherit cystic fibrosis, a ½ chance of having a child who does not have cystic fibrosis, there is a ½ chance that the child will be a carrier. And there is a ¼ chance that the child is not a carrier or affected by the cystic fibrosis allele. Individuals with CF suffer from lung problems because they have sticky mucus, which causes mucus to build up in the lungs. This means that pathogens such as bacteria can become trapped in the lungs, eventually causing an infection. Additionally, the cilia don't work properly, which means the mucus can't be moved, causing inflammation. This causes symptoms such as persistent cough. Likewise, people living with cystic fibrosis suffer from “pancreatic insufficiency.” This is because mucus gets stuck in the digestive tubes, causing scarring and inflammation of the pancreas. This is due to enzymes accumulating in the pancreas instead of traveling to the digestive system. Additionally, scarring in the pancreas affects the normal function of the pancreas, resulting in a sluggish pancreas as it limits the production of insulin, which is essential for regulating the amount of sugar in the blood. This causes cystic fibrosis-related diabetes (CFRD), which affects more than 30 percent of adults living with cystic fibrosis. Say no to plagiarism. Get a tailor-made essay on "Why Violent Video Games Shouldn't Be Banned"? Get an original essay Additionally, cystic fibrosis affects the secretion and function of bile, which is produced in the liver. Cystic fibrosis causes the liver to produce sticky bile, which causes irritation and inflammation of the bile ducts in the liver. Sometimes inflammation in the bile ducts creates permanent damage to the scarring of the ducts and normal liver function. This means that an underactive liver will reduce the production of bile, causing a chemical imbalance and generating digestion problems in the affected individual, including swelling of the abdomen. People living with cystic fibrosis have thinner, weaker bones, susceptible to fractures at an earlier age. This is because bone has low levels of collagen and minerals which are essential for the bone to become strong and allow for a rigid structure for the body. This causes severe joint pain in the bones. Cystic fibrosis also affects puberty and fertility in women. Women with CF are likely to have very irregular menstrual cycles or never have periods, which means they will not ovulate every month like a healthy woman. This can cause many mental health problems. Case studyRebekah is 19 years old and was born with cystic fibrosis, caused by the defective alleles of her parents who were both carriers. However, both of his parents had no idea that they were carriers of cystic fibrosis, as they are both orphans. Rebekah was rushed to hospital on her first birthday. Her parents had noticed her coughing and wheezing much more often. Her mother, who is a nurse, suspected that Rebekah might have cystic fibrosis, but dismissed the idea.