Cystic fibrosis (CF) is a genetic disease that affects the lungs and the digestive system. It is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which leads to thicker and stickier mucus. CF is an inherited condition, meaning it occurs when an individual inherits a defective gene from both of their parents (Férec & Scotet, 2020).
In the case of the 6-month-old child in scenario 2, various symptoms were observed. The baby had a swollen belly and tasted “salty.” The swollen stomach can be attributed to insufficient pancreatic enzymes due to the inflamed and blocked pancreas. This results in the delayed gastric emptying and slow movement of food through the intestines (Farrell et al., 2017). The salty taste is a result of the problem associated with the transportation of chloride across cell membranes. CFTR dysfunction leads to higher levels of chloride (as salt) in sweat, which can be tasted on the skin (Farrell et al., 2017).
The infant also experiences discomfort after eating and inadequate weight gain due to the lack of enzymes in the digestive system. The sticky mucus in CF blocks the ducts in the pancreas, preventing the enzymes from reaching the small intestines to digest food (Farrell et al., 2017). This undigested food in the intestines can cause pain, cramping, gas, and either loose, greasy, floating stools or constipation and blockages.
The cells involved in this process are the epithelial cells, which line the passageways inside the lungs, liver, pancreas, and digestive systems. In CF, the secretory glands that produce mucus and sweat disrupt the normal functioning of epithelial cells. This leads to the accumulation of thick, sticky mucus in the airways and other affected organs (Farrell et al., 2017).
The prevalence of CF can vary across different ethnic groups. Some reports have shown that CF incidence differs depending on ethnicity. For example, the incidence in Native Americans, whites, and black individuals is 37.2, 38.8, and 17.1 per 100,000, respectively (Paz-y-Miño et al., 2020). These differences in prevalence could be due to variations in genetic factors among different populations.
In the case of the mother in scenario 2 who is a carrier of the cystic fibrosis gene, her concern for reproduction is valid and considered a risk factor. When both parents are carriers of the CF gene, there is a 25% chance that each of their children will inherit two copies of the defective gene and develop CF (Férec & Scotet, 2020). It is crucial for the mother to understand the genetic implications and the potential risk of passing on the CF gene to her children.
In conclusion, cystic fibrosis is a genetic disease that affects the lungs and digestive system due to mutations in the CFTR gene. The symptoms can include a swollen belly, salty taste, discomfort after eating, inadequate weight gain, and digestive issues. CF disrupts the normal functioning of epithelial cells, leading to the production of thick, sticky mucus. The prevalence of CF can vary among different ethnic groups, and being a carrier of the CF gene is a significant risk factor for having a child with CF. It is essential for individuals with CF or carrying the CF gene to be aware of the genetic implications and seek appropriate medical guidance.