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Discussion: Alterations in Cellular Processes

WEEK 1 DISCUSSION: MAIN POST

Cystic fibrosis is a chronic progressive disease that is more prevalent in Caucasians and rear among Asians and Africans.  Among Caucasians born in Europe, Canada and the United States its about 1/1,800 to 1/5,000 and 1/14,000 in Afro-Americans and 1/40,000 in Finland (Haack, A., Arogao, G.G. & Novaes, M.R.C.G, 2013). It is an inherited disease that affects most organs in the body (Hopkins, n.d.).

 Cystic Fibrosis is caused by mutation of the CFTR (cystic fibrosis conductance transmembrane regulator) which is the gene that produces CF. When mutation of this gene occurs, it affects the transportation of electrolytes such as sodium and water in and out of the cells (Hopkins, n.d.).

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For one to have cystic fibrosis, it means that they were born by a father and mother who passed on the cystic fibrosis gene to them (Hopkins, n.d.).  The parents could be carriers of the CF gene and may not be aware that they carry the CF genes. The CF genes affects the respiratory system, digestive system and the reproductive system.

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The CFTR protein is mainly found in the plasma membrane and some other organelle (Lukasiak, A & Zajac, M. 2021). This means that the CFTR protein cause the plasma membrane to dysfunction by causing the cell to absorb too much sodium and water which then affects the sweat and mucus glands.  When this happens, the secretion in the lungs thickens and hardens and unable to move causing difficulty in breathing and putting the patient at high risk for respiratory infections which makes the patient suffer from recurrent episodes of respiratory infections and eventual death of the cells in the lungs (Hopkins, n.d.).

CF affects the digestive organs by causing the secretions in the pancreas to thicken blocking the pancreatic ducts and preventing it from synthesizing glucose and fat leading to symptoms such as bulky fatty stools and delayed puberty (Hopkins, n.d.).

The reproductive system is also affected by the thickening of the secretions clogging the vas deferens so that sperm cannot be transported in males leading to infertility while in females it makes the cervical mucus to thicken decreasing fertility. (Hopkins, n.d.).  

 

                                                            Reference:

1.Haack, A., Arogao, G.G. & Novaes, M.R.C.G. (2013). Pathophysiology of Cystic Fibrosis and drugs. Retrieved9/01/2022 from https:www.ncbi.nlm.nih.gov>pmc

2.Hopkins Cystic Fibrosis. Retrieved on 9/01/2022 form https://www.hopkinsmedicine.org/health/conditions-and-disease/cystic-fibrosis

 

Lukasiak, A & Zajac, M. (2021) The Distribution and Role of the CFTR Protein in the Intracellular Compartments. Membranes,11(11),804. Retrieved on 9/01/2022 from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618639/

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2 months ago

Kari Mau WALDEN INSTRUCTOR MANAGER

RE: nurs

COLLAPSE

Thank you for reviewing the pathophysiology related to CF. I appreciate you sharing how patho changes how cells function. How did you identify these changes in our patient in the case? What changes did you relate to CF? Thanks!

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2 months ago

Patience Enabosi 

RE: Cystic Fibrosis

COLLAPSE

Reply 1 

Professor Kari Mau,

Thank you for your feedback on my main post.

In our patient in the case, the episodes of crying by the baby after eating is stomach pain which is one of the symptoms of Cystic fibrosis (Hopkins, n.d.). When a child has cystic fibrosis, the cells in the body especially in the respiratory, digestive and reproductive system dysfunctionally absorb excess sodium and water causing the secretions to thicken (Hopkins, n.d.).

In the case of the baby in our study, the pancreatic enzymes thickens and hardens because of the presence of excess sodium and water causing the pancreatic duct not to work efficiently. The result is that the pancreas decreases it ability to secret sufficient enzymes to aid in the digestion of protein and fatty foods etc. (Hopkins, n.d.). The baby’s food which most probably contains protein and fat will remain undigested or partially digested causing the baby to suffer stomach pain, bloating and passing out bulky fatty stool. Again, CF affects the liver, and the symptom is swollen stomach (Hopkins, n.d.). hence the baby’s stomach is swollen.  The baby taste salty because of the presence of sodium in the sweat glands located of the skin causing the skin to taste saltier than normal sweat (NIH NHIBI, n.d.). The baby is experiencing these symptoms because these symptoms start in childhood (Hopkins, n.d.).

In the case of the 23 months old baby having multiple episodes of chest congestion and hospitalization with pneumonia (PNA) is evidence of the thickened and hardened secretions in the lungs caused by the presence of too much sodium and water in the lungs, resulting in chest congestion (Hopkins, n.d.). Consistent congestion of the chest creates an environment for bacterial infections (Hopkins, n.d.). which is why the baby boy was hospitalized for PNA.

 

                                                            References

1.Hopkins Cystic Fibrosis. Retrieved on 9/01/2022 form https://www.hopkinsmedicine.org/health/conditions-and-disease/cystic-fibrosis

  1. 2. NIH National Heart, Lungs and Blood Institute (n.d.). Cystic Fibrosis – Symptoms. Retrieved 9/2/2022 from  https://www.nhlbi.nih.gov/health/cystic-fibrosis/symptoms

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2 months ago

Monique Davis 

RE: Cystic Fibrosis

COLLAPSE

Hello Patience, as we explore this case, what strategies could we consider to support the family and the child as they begin the process of understanding this diagnosis? How can the nurse partner with the family and community agencies to support the family?

Thanks!
Monique

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2 months ago

Kristine Deal 

RE: nurs

COLLAPSE

Patience,

Doing a deep dive into CF during this case study was very intriguing. Understanding how genetic play a role in conditions like CF is important for us as future APRNs. Now that newborn screenings are in place to assist with early diagnose in newborns we have entered an era where we can start early treatments. CF. Castellani et al. (2019) explain that we are currently in a new era were CF can not only be detected earlier than ever before but rapidly moving towards CF transmembrane conductance regulator (CFTR) protein modulators give opportunities to patients who are presymptomatic. This could make such a difference in patients lives and have the potential to be life-altering. What do you think about early treatment?

References

Castellani, C., Linnane, B., Pranke, I., Cresta, F., Sermet-Gaudelus, I., & Peckham, D. (2019). Cystic Fibrosis Diagnosis in Newborns, Children, and Adults. Seminars in Respiratory and Critical Care Medicine, 40(06), 701–714. https://doi.org/10.1055/s-0039-1697961

Sharma, N., & Cutting, G. R. (2020). The genetics and genomics of cystic fibrosis. Journal of Cystic Fibrosis, 19(9), S5–S9. https://doi.org/10.1016/j.jcf.2019.11.003

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2 months ago

valeriy titov 

RE: nurs Reply #1

COLLAPSE

Response 1

Thanks for sharing Patience. I believe you did a good description as to what CF is and how its passed on. I like your quote stating that, CF affects the digestive organs by causing the secretions in the pancreas to thicken blocking the pancreatic ducts and preventing it from synthesizing glucose and fat leading to symptoms such as bulky fatty stools and delayed puberty. This is why the baby is presenting GI symptoms and the baby is not gaining weight and having abdominal distention. Yu states that increased viscosity of excretions and obstruction of the pancreatic ductulus inhibits this process. The net pH of the secretions lessens due to decreased sodium bicarbonate composition lending to a lesser neutralization of the acidic stomach chyme. The lower pH chyme effectively degrades what pancreatic enzymes reach the intestinal lume (2021). Due to the lack of vitamin malabsorption due pancreatic disfunction many CF patients are malnourished.

You also mentioned in regards to the genetic part of this disease, you quoted, “for one to have cystic fibrosis, it means that they were born by a father and mother who passed on the cystic fibrosis gene to them”. This is correct mother and father can pass the disease when they are carriers. There is a 1:4 chance of producing a CF child, and half of all their children will also be carriers (Horsley et. al, 2015). I believe in this situation I would recommend parents talk to a genetics specialize and seek counseling for future reproductive concerns. Also, highly recommend the parents to get their other child tested as they present with symtoms of CF.

Reference

Horsley, A., Cunningham, S., & Innes, A. (2015). Cystic fibrosis (Second edition.). Oxford University Press

Yu E, Sharma S. Cystic Fibrosis. [Updated 2021 Aug 11]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK493206

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2 months ago

Kaleigh Applewhite 

RE: nurs

COLLAPSE

 

Patience,

 

I appreciate your explanation of the patho behind cystic fibrosis (CF). You are correct that the disease is caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR). This regulator is a chloride and bicarbonate channel necessary for fluid secretion and extracellular alkalization (Kunzelmann, Schreiber & Hadom, 2017). The mutation causes an imbalance that leads to patients with CF to have elevated sweat chloride. The distinguishable salty character of the sweat belonging to individuals suffering from CF makes sweat chloride estimation essential for diagnosis of CF disease (Raina et al., 2016). You did a great job explaining how CF causes intestinal and reproductive system issues as well. Thanks for posting!

 

References

 

Kunzelmann, K., Schreiber, R., & Hadorn, H. B. (2017). Bicarbonate in cystic fibrosis. Journal of Cystic Fibrosis, 16(6), 653-662.

 

Raina, M. A., Khan, M. S., Malik, S. A., Raina, A. H., Makhdoomi, M. J., Bhat, J. I., & Mudassar, S. (2016). Assessment of correlation between sweat chloride levels and clinical features of cystic fibrosis patients. Journal of clinical and diagnostic research: JCDR, 10(12), BC01.

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2 months ago

Joseph Raymond Agalabia 

RE: nurs

COLLAPSE

Hi Patience, 

Thank you for your post. I agree with most of your description for cystic fibrosis. However, I would just clarify that in the digestive system, the thickened secretions in the pancreas, mostly produced by the exocrine glands, leads to blockage of the ducts and inability of the enzymes to be transported to the small intestines. This drop in pancreatic enzymes leads to the inability to absorb fats, some proteins, and fat soluble vitamins. Glucose synthesis is not necessarily affected, but the thickened pancreatic secretions can damage hormonal cells and thus produce glucose intolerance and even type 1 diabetes in patients with cystic fibrosis (URMC, n.d.). The symptoms of the child like abdominal pain after eating, and abdominal distention are caused by decreased enzymes in the small intestines because of blocked passage of exocrine pancreatic secretions. The inability for the patient to absorb fats, some proteins and vitamins leads to malnutrition and thereby poor weight gain. I appreciate you including the reproductive consequences of cystic fibrosis, including delays in puberty and infertility as it definitely can affect future life outcomes and decisions for patients with cystic fibrosis. 

Reference:

University of Rochester Medical Center. (n.d.). Cystic Fibrosis and the Digestive System – Health Encyclopedia – University of Rochester Medical Center. Urmc.Rochester.Edu. Retrieved September 2, 2022, from https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=90&ContentID=P02934#:%7E:text=Because%20of%20CF%27s%20effects%20on%20the%20digestive%20system%2C,7%20Poor%20weight%20gain%20and%20growth%208%20Gallstones

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2 months ago

Carissa Guerra 

Week 1 Response 2

COLLAPSE

Patience, thank you for your informative input on cystic fibrosis. I appreciate you commenting on the fertility aspect of CF. CF has a profound impact on multiple organ systems, especially the reproductive system. Fertility issues related to CF affects males and females differently. The effects of cystic fibrosis on the health of male reproduction are significant. Obstructive azoospermia causes the great majority of CF men to be infertile (Yoon et al., 2019). Congenital bilateral vas deferens absence affects nearly all men (>98%) with CF, rendering them sterile (Yoon et al., 2019). Reduced fertility can also occur in women with CF for a number of reasons, including etiologies independent to the condition (Hughan et al., 2019).  Nutritional deficits and other disease-related stressors can cause hypothalamic suppression, which can lead to anovulation, contributing to lowers fertility rates in women with CF. Another factor affecting fertility in women with CF is, thickened cervical mucous, which prevents sperm from entering the cervical os (Hughan et al., 2019). In this case, it would be extremely beneficial for the mother of the infant to follow up with genetic testing and genetic counseling. Family planning is a personal choice and should be based on making the most informed decision.

References

Hughan, K. S., Daley, T., Rayas, M. S., Kelly, A., & Roe, A. (2019). Female reproductive health in cystic fibrosis. Journal of Cystic Fibrosis, 18, S95–S104. https://doi.org/10.1016/j.jcf.2019.08.024

Yoon, J. C., Casella, J. L., Litvin, M., & Dobs, A. S. (2019). Male reproductive health in cystic fibrosis. Journal of Cystic Fibrosis, 18(2), S105–S110. https://doi.org/10.1016/j.jcf.2019.08.007

sample 2

week 1
COLLAPSE

     The mother appears with a six-month-old kid and several issues in the scenario. It is determined that the baby has cystic fibrosis, a complex disease process with autosomal recessive genes. In this case, the health care provider’s explanation and education of the mother about the significance of genetics in this condition are crucial. Eye color, bodily form, and health issues are inherited traits controlled by genes. With one gene inherited from each parent to form a pair, cystic fibrosis is caused when both genes in the couple are mutated.

The individual with cystic fibrosis receives one CF gene from each parent (“Stanford Medicine,” 2020). The HCP should utilize a visual aid to explain to the mother that both she and the kid’s father contain a defective disease-specific gene and that the child acquired two mutant copies of the cystic fibrosis transmembrane conductance regulator gene (CFTCR). Research suggests a broad range of polymorphisms that enhance the CFTCR protein, and approximately 90,000 people recruited by the CFTCR2 study throughout the globe possess 1,640 distinct CFTCR variants (Sharma & Cutting, 2020). The 23-month-old may also suffer from cystic fibrosis, but his symptoms may be less severe. Multiple bouts of chest congestion and pneumonia are caused by the CFTCR gene deficiency, which results in an incredible number of variants and severity (Sharma & Cutting, 2020). It is uncertain whether the kid has the same parents in this circumstance.

The faulty transport of chloride ions creates a salt imbalance, generating abnormally thick, dry mucus (Huether and McCance, 2017). The gene responsible for cystic fibrosis encodes a chloride ion channel in specific epithelial cells. When ion channels malfunction, chloride ions and water cannot pass freely in and out of cells (“NIH.gov,” 2020). This explains why babies tend to taste salty after being kissed by their mothers. Most people with cystic fibrosis are Caucasian, and the average age of diagnosis is six months. Even though CF is notorious for the respiratory failure and increased mortality it causes, a lesser-known aspect of the disease is its impact on the digestive system. Inflammation and infections are constant problems for people with CF, and they also affect the digestive tract, bile ducts, and pancreas (Huether & McCance, 2017, p. 725)

Normal physiological activities are affected by physiologic reactions to cystic fibrosis stimuli. A sweat chloride test may detect symptoms such as recurrent cough and pneumonia, excellent appetite with inadequate weight gain, loose and foul-smelling bowel activities, and clubbing of the fingers (“Stanford Medicine,” 2020). The newborns’ pain after feeding and lack of weight is incorrectly ascribed to digestive enzymes. According to Stanford Med (2020), the pancreas gets obstructed due to the thickness of the mucus in CF. It stops enzymes from accessing the small intestine, resulting in the malabsorption of fats and proteins and poor digestion of meals. Fats that are not digested may also result in excessive intestinal “gas,” an excessively enlarged abdomen, and abdominal pain or discomfort.

Universal newborn screening for cystic fibrosis will improve the number of infants receiving early, pre-symptomatic diagnosis and treatment in the United States (Huether & McCance, 2017, p. 726). Most data reveals that white men have the most significant incidence of verified CF illness, whereas other races have a lower prevalence. New medicines developed as a result of a study into the molecular and genetic details of cystic fibrosis have reduced mortality. A new class of medications known as CFTR modulators has increased the life expectancy of people with cystic fibrosis from a few months to more than 40 years (Bezzerri, et., 2019). Because she has the gene for cystic fibrosis, the mother’s concerns over reproduction are justified and should be viewed as a risk factor. She and her partner should undergo further genetic carrier screening and be aware of the dangers of getting pregnant again.

 

References

Bezzerri, V., Piacenza, F., Caporelli, N., Provinciali, M., & Cipolli, M. (2019). Is cellular senescence involved in cystic fibrosis? Respiratory Research, 20(1). http://dx.doi.org/10.1186/s12931-019-0993-2

CFTR cystic fibrosis transmembrane conductance regulator. (2021). https://ghr.nlm.nih.gov/gene/CFTR#

FDA approves breakthrough therapy for cystic fibrosis. (2019). Retrieved from https://www.fda.gov/news-events/press-announcements/fda-approves-new-breakthrough[1]therapy-cystic-fibrosis

Huether, S. E., & McCance, K. L. (2017). Understanding pathophysiology (6th ed.). St. Louis, MO: Elsevier.

Sharma, N., & Cutting, G. (2020). The genetics and genomics of cystic fibrosis. Journal of Cystic Fibrosis, 19(1). http://dx.doi.org/10.1016/j.jcf.2019.11.003

The basics of cf. (2020). https://med.stanford.edu/cfcenter/education/english/BasicsOfCF.html

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2 months ago
Kristine Deal 
RE: week 1
COLLAPSE

Elza,

I found your discussion post interesting as well as the content which we did our case study. Being in an adult cardiac setting for most of my career I have only come across a few cases of CF. Castellani et al. (2019) explain that we are currently in a new era were CF can not only be detected earlier than ever before but rapidly moving towards CF transmembrane conductance regulator (CFTR) protein modulators give opportunities to patients who are presymptomatic. I found the genetic roles very interesting as well. Sharma & Cutting (2020) explained that although we understand the mutation of both copies of the CFTR gene with the diagnosis of CF we have not yet found a full explanation for the variation in the severity of the disease in individuals. I found this very interesting and am in awe of the complexity of CF and diseases process in general. Look forward to interacting in this class.

 

References

Castellani, C., Linnane, B., Pranke, I., Cresta, F., Sermet-Gaudelus, I., & Peckham, D. (2019). Cystic Fibrosis Diagnosis in Newborns, Children, and Adults. Seminars in Respiratory and Critical Care Medicine, 40(06), 701–714. https://doi.org/10.1055/s-0039-1697961

Cystic Fibrosis Foundation. (n.d.). Role of Genetics in CF | Cystic Fibrosis Foundation. Www.cff.org. https://www.cff.org/intro-cf/role-genetics-cf

Sharma, N., & Cutting, G. R. (2020). The genetics and genomics of cystic fibrosis. Journal of Cystic Fibrosis, 19(9), S5–S9. https://doi.org/10.1016/j.jcf.2019.11.003

Stanford Medicine Children Health. (2019). default – Stanford Children’s Health. Stanfordchildrens.org. https://www.stanfordchildrens.org/en/topic/default?id=cystic-fibrosis-and-the-digestive-system-90-P02934

 

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2 months ago
Nicole Petteway 
RE: week 1 Response 2 Nicole Petteway
COLLAPSE

Elza, I agree that the mother and her partner should undergo further genetic carrier screening for future births after birthing a child with cystic fibrosis. The most catastrophic hereditary disease affecting Caucasians is cystic fibrosis (CF). The CFTR gene (cystic fibrosis transmembrane conductance regulator), which oversees mucus viscosity and aggravation, is the cause of the condition. Due to the available treatments, life expectancy has dramatically improved for these individuals. Life expectancy for CF patients increased from five years in the 1960s to 46.2 years for those born in 2017 in the United States (Jacob, A et al.,2021)

As people with CF commonly experience suboptimal and fragmented reproductive health care provision, it is crucial to promote effective collaborations between the CF team, primary care providers, and reproductive health specialists. (Kazmerski et al., 2021) More individuals with cystic fibrosis can have children thanks to improved medications.

 

 

Jacob, A., Journiac, J., Fischer, L., Astrologo, L., & Flahault, C. (2021). How do cystic fibrosis patients experience parenthood? A systematic review. Journal of Health Psychology, 26(1), 60–81. https://doi.org/10.1177/1359105320916539

 

 

Kazmerski, T., Taylor-Cousar, Aitken, M., Georgopoulos, A., Uluer, A., Jain, R., & West, N. (2021, August 4). Family‐building and parenting considerations Wiley online library. Wiley. Retrieved September 4, 2022, from https://onlinelibrary.wiley.com/doi/10.1002/ppul.25620

 

 

 

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