Cystic Fibrosis

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M.T, a 5-year-old girl suffers from cystic fibrosis coupled by frequent infections of the lung. She takes pancrelipase alongside her meals as a means of facilitating digestion. A recent checkup found her underweight for her age.  

Question 1

Cystic fibrosis is a genetically inherited condition; thus, since M.T has it, one or all of her parents must be carriers. The probability of a future pregnancy having cystic fibrosis is either 50% or 25%, depending on whether the carrier is just one parent or both, respectively (Genetics Home Reference, 2020).

Question 2

Put simply, cystic fibrosis is caused by gene mutations; specifically, the CFTR gene (Katkin, 2019). The gene produces proteins essential for the regulation of sodium and chloride ion movement across the epithelial membrane of the cells (Katkin, 2019). Gene mutations jeopardize this ion movement, resulting in the accumulation of thick mucus all over the body, causing respiratory problems and other obstructions (Katkin, 2019). These effects are seen in organs such as the lungs and pancreas, among others.

Question 3

The accumulation of thick mucus membranes on the lungs compromises the function of bronchioles, thus resulting in atelectasis, which could become permanent damage and render the lungs defective (Katkin, 2019).

Question 4

Gooey mucus that accumulates in the lungs, clogging the airways, traps all sorts of bacteria (Branswell, 2016). The environment not only traps dangerous bacteria (VanMeter & Hubert, 2014), but also facilitates their growth and survival, thereby making the infections deadly and long-term.

Question 5

The first limitation is in finding a dentist willing to operate on the sickly M.T. Additionally, she may be suffering from an upper respiratory infection, making it even more challenging for a dentist to work optimally. Finally, standard precautions, such as handwashing, must be considered to prevent further infection because of her poor immune status and vulnerability.

Question 6

Because of the obstructions in the digestive system and the subsequent effects, maintaining adequate nutrition for M.T. requires a means to replace the pancreatic enzymes, especially through bile salt supplements, if possible. They should be taken alongside typical meals that support the immune system and infection prevention. M.T. must also have a high-protein low-fat diet (VanMeter & Hubert, 2014). The fact that digestive obstruction could lead to a deficit of several nutrients, supplements such as multivitamins, or even fiber should also be administered to promote the proper function of the body.

Question 7

Pancrelipase enzyme functions to support the digestive system among cystic fibrosis patients or those who cannot digest properly because of the lack of pancreatic enzymes (Sharma, 2019). Steatorrhea occurs as a result of the inability of the gastrointestinal system to digest food fully and properly, with fat seeping into the stool. Accompanied by diarrhea, this may decrease her fluid volume, thereby predisposing her to hypoxia resulting from oxygen deficit throughout the body. If prolonged, this condition could result in respiratory dysfunction.

Question 8

Failure to properly digest proteins could result in muscle degeneration and overall body weakness. This situation is further exacerbated in the case when calcium is improperly digested, leaving the bones weak and less developed (VanMeter & Hubert, 2014). Failing to digest vitamin D could also affect bone development and cause weakness of muscles, while the lack of vitamin K is a recipe for cardiac issues (VanMeter & Hubert, 2014). On the other hand, iron deficiency could cause anemia.

Question 9

Katkin (2019) posits that advancement in fibrosis and obstruction contribute to bronchiectasis and even emphysematous. Typical signs of bronchiectasis include persistent cough with phlegm or blood in some cases, acute joint and chest pain, extreme cases of wheezing and uneasiness in the chest when breathing, inexplicable weight loss, constant fatigue, fingertip clubbing, as well as common respiratory infections (Wint & Solan, 2018).

Question 10

A high fever may cause diaphoresis. Extreme perspiration could result in the loss of electrolytes, putting M.T at a high risk of imbalance of fluids and electrolytes. Besides, respiratory and lung infections prevent an adequate supply of fluids throughout the body, which could also result in fluid-electrolyte imbalance. In light of the potential imbalances, there should be a close consideration of chemistry panels and accompanying electrolyte replacement as appropriate.

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GradShark (2023). Cystic Fibrosis. GradShark.

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