For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and impacts. 

The genetic disorder Cystic Fibrosis affects cells responsible for producing mucus and sweat as well as digestive juices. CF is caused by mutations of the cystic fibrosis conductance regulator gene (CFTR), which gives instructions on how to make a protein. This regulates salt and water movement in and out cells. CF is a condition that affects many organs, but lungs and the digestive system are the most affected.

The 6-month-old child in this scenario has symptoms that are similar to CF. This baby has episodes of crying when eating, low weight gain, abdominal swelling, and a salty taste. The dysfunction of the CFTR can explain these symptoms. The CFTR does not function correctly in people who have CF. This leads to a buildup in mucus that is thick and sticky in the lungs, as well as the digestive tract. In the lungs, thick mucus can lead to recurrent infections, shortness of breathe, and coughing. The thick mucus in the digestive tract can block the pancreas. This prevents digestive enzymes reaching the intestines. It also leads to abdominal distension, malabsorption and poor weight gain.

The physiologic response to the stimulus presented in the scenario is a result of the body’s attempt to clear the mucus. The mucus that accumulates in airways of people with CF is sticky and thick, which makes it hard to remove. Increased mucus production can lead to an obstruction of the airways, which may cause inflammation or recurrent infection. The coughing and wheezing are the body’s attempt to clear the mucus and improve airflow.

These cells are epithelial cells of the airways, and those in the pancreas. These cells express the CFTR gene, which is responsible for regulating salt and water movement in and out. CF symptoms are caused by thick sticky mucus when the CFTR proteins is not functioning properly.

If the baby’s sibling has also been diagnosed with CF, it is likely that the parents are carriers of the CFTR gene mutation. CF is autosomal-recessive, which means that a person has to inherit two copies (one each from both parents) of the mutated CFTR genes in order to have the condition. There is a 25 percent chance that if two parents are carriers their children will develop CF.

CF can be defined as a genetic disease that affects cells responsible for producing mucus and other digestive fluids. The CFTR is dysfunctional, resulting in thick and sticky mucus to build up inside the lungs, digestive tract, and other organs. In order to help identify carriers of CF and offer genetic counseling, it is essential that we understand the genetic basis for CF. The early diagnosis of CF and its management are crucial for the survival and quality of life of those affected.