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Cystic Fibrosis

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CF is a genetic illness that harms body proteins. Cystic fibrosis patients have a defective protein that impairs the body’s tissues, cells, and glands that produce sweat and mucus (National Institute of Health, 2021). Mucus is typically slippery and safeguards the digestive tract, airway, and other tissues and organs. Cystic fibrosis patients produce thick and sticky mucus, which can accumulate and cause damage, blockages, or infections in the impacted organs.  Organs like the pancreas and lungs are also damaged by inflammation.

The role of genetics in cystic fibrosis

Different types of mutations or changes in our genes have different effects on our bodies. There are minor differences in our genetic composition. Sometimes the dissimilarities are slight or have no bearing on the health of an individual. An example is when multiple encyclopedia entries are coded slightly differently but still conveys the same information (Cystic Fibrosis Foundation, n.d). At times, a change in a gene may prompt the protein to fail or not be secreted at all. This disease is caused by gene mutations that produce a protein known as cystic fibrosis transmembrane conductance regulator (CFTR). The CFTR protein adjusts the transportation of fluids and salt from and into the cells throughout the body. Therefore, each parent ought to be a carrier of a mutated CFTR gene or have CF.

Why the sick child is displaying the described symptoms

The infant is not gaining weight despite having a good appetite due to insufficient intake of calories. Fighting infections and breathing use up extra energy in CF patients, hence burning more calories. CF patients require double the amount of calories recommended to individuals who don’t suffer from the disease and having similar weight and age (Cystic-Fibrosis.com, 2019). Another reason for not gaining weight is attributed to malabsorption. Enzymes responsible for breaking down food into usable substances are inhibited by the mucus produced in CF patients. This condition that causes malabsorption is referred to as pancreatic inefficiency. The baby tastes salty because CF patients experience difficulty in chloride transportation through cell membranes (CF Trust, n.d). The result is concentrated levels of chloride in the sweat, which has a salty taste.

The child’s belly swells due to mucus blockage of the tiny tubes that ferry digestive enzymes out of the pancreas. The enzymes accumulate in the pancreas rather than the digestive system, causing inflammation in the pancreas (CF Trust, n.d). The infant is also displaying signs of colic pain that may be attributed to intestinal telescoping, constipation, and heartburn. Also, gall stones from thick liver secretion that causes the liver to fail are another possible reason for colic pain.

The psychological stimulus demonstrated in the scenario

The physiological stimulus presented in the scenario is acetylcholine released from ganglionic cholinergic fibers that stimulate the transportation of copious fluid via a pathway independent of the CFTR (Zaagsma & Meurs, 2006). Therefore, I think this response occurred due to the localization of secretory cells induced by a rise in cytosolic calcium through cholinergic stimulation.

The mast cells, epithelial cells, smooth muscle cells, and the migrated immune cells like lymphocytes, alveolar, granulocytes, and macrophages are involved in this process.

I would change my response after considering another characteristic like gender. The CF-causing genes shorten the life expectancy of women compared to men despite elucidating key comorbidities linked to CF. Additionally, women are attacked by some prevalent CF pathogens at an earlier stage than men. Hence they demonstrate a reduced life expectancy in respiratory infections.       

References

National Institute of health. (2021). Cystic Fibrosis | NHLBI, NIH. Retrieved 31 May 2021, from https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis

Cystic Fibrosis Foundation. CF Genetics: The Basics. Cff.org. Retrieved 31 May 2021, from https://www.cff.org/What-is-CF/Genetics/CF-Genetics-The-Basics/#:~:text=Cystic%20fibrosis%20is%20caused%20by,different%20parts%20of%20the%20body.

Cystic-Fibrosis.com. (2019). Effects of Cystic Fibrosis on Growth and Development. Cystic-Fibrosis.com. Retrieved 31 May 2021, from https://cystic-fibrosis.com/symptoms/malabsorption.

CF Trust. Salt and sweat. CF Trust. Retrieved 31 May 2021, from https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/how-does-cystic-fibrosis-affect-the-body/symptoms-of-cystic-fibrosis/salt-and-sweat#:~:text=Why%20do%20people%20with%20CF,do%20not%20have%20cystic%20fibrosis.

CF Trust. How cystic fibrosis affects the pancreas & digestive system. CF Trust. Retrieved 31 May 2021, from https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/how-does-cystic-fibrosis-affect-the-body/cystic-fibrosis-complications/digestive-system#:~:text=In%20digestion%20in%20people%20with,the%20pancreas%20to%20become%20inflamed.

Zaagsma, J., & Meurs, H. (2006). ACETYLCHOLINE. Encyclopedia Of Respiratory Medicine, 1-5. https://doi.org/10.1016/b0-12-370879-6/00002-8

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