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. 

Cystic fibrosis (CF) is a genetic disorder that affects the cells that produce mucus, sweat, and digestive juices. CF results from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which provides instructions for making a protein that regulates the movement of salt and water in and out of cells. CF affects various organs in the body, but the lungs and digestive system are primarily affected.

The symptoms presented by the 6-month-old baby in the scenario are consistent with CF. The baby is experiencing episodes of crying after eating, poor weight gain, abdominal distension, and salty taste. These symptoms can be explained by the dysfunction of the CFTR protein. In people with CF, the CFTR protein does not work correctly, resulting in a buildup of thick, sticky mucus in the lungs and digestive system. The thick mucus in the lungs can cause recurrent respiratory infections, coughing, and shortness of breath. In the digestive system, the thick mucus can obstruct the pancreas, preventing digestive enzymes from reaching the intestines and leading to malabsorption, poor weight gain, and abdominal distension.

The physiologic response to the stimulus presented in the scenario is a result of the body’s attempt to clear the mucus. In people with CF, the mucus in the airways is thick and sticky, making it difficult to clear. The increased production of mucus leads to airway obstruction, which can cause inflammation and recurrent infections. The coughing and wheezing are the body’s attempt to clear the mucus and improve airflow.

The cells that are involved in this process are the epithelial cells that line the airways and the pancreas. The CFTR protein is expressed in these cells and is responsible for regulating the movement of salt and water in and out of the cells. When the CFTR protein is dysfunctional, it leads to the buildup of thick, sticky mucus that causes the symptoms of CF.

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 an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated CFTR gene (one from each parent) to develop the disease. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutated gene and develop CF.

In conclusion, CF is a genetic disorder that affects the cells that produce mucus, sweat, and digestive juices. The dysfunction of the CFTR protein leads to the buildup of thick, sticky mucus in the lungs and digestive system, causing the symptoms of CF. Understanding the genetic basis of CF is crucial in identifying carriers and providing genetic counseling to affected families. Early diagnosis and management of CF are essential for improving the quality of life and survival of affected individuals.