Posted: February 10th, 2022
In scenario 2 provided, the mother presented her 6- month old child, and upon diagnosis, it is discovered that the baby has cystic fibrosis. Cystic fibrosis is a genetic disease that affects the lungs and the digestive system. The defective gene that is primarily responsible for this condition leads to thicker and stickier mucus.
Cystic fibrosis is caused by mutations in the gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Genetics play a vital role in causing Cystic fibrosis as it occurs when one has an inherited condition in which one gene is defective from both of their parents (Férec & Scotet, 2020).
The child presented various symptoms, which include swollen belly and tasting “salty.” The swollen stomach can be significantly attributed to insufficient pancreatic enzymes due to the inflamed and blocked pancreas; this results in late gastric emptying and slow gut transit. On the other hand, the baby tasted salty because of the problem associated with the transportation of chloride across the cell membrane leading to the possibility of higher levels of chloride (as salt) in sweat (Farrell et al.,2017).
The infant experiences discomfort after eating, and inadequate weight occurs due to the enzymes in the digestive system. Mucus becomes sticky, blocking the ducts in the pancreas preventing the enzymes from reaching the small intestines to digest food (Farrell et al.,2017). The 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. The condition affects the secretory glands making mucus and sweat glands disrupt the normal functioning of epithelial cells since they make up the sweat glands in the skin and lining the passageways inside the lungs, liver, pancreas, and digestive systems.
Race and ethnicity are some of the characteristics that affect the prevalence of Cystic fibrosis. Some reports evidenced CF prevalence differs depending on ethnicity. For instance, 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).
It is important to note that the mother’s concern for reproduction is valid and considered a risk factor. It is the case since the mother is a carrier of the cystic fibrosis gene.
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