NURS 6501 Alterations in Cellular Processes
NURS 6501 Alterations in Cellular Processes
This paper is being written to explain the pathology of cystic fibrosis. I personally have a friend who has this disease and have learned from her. The topics that will be covered are, how cystic fibrosis is created at a cellular level, genetics role in cystic fibrosis, the reasoning for the symptoms that the patient presented with, the description of the cells involved in cystic fibrosis, and how other characteristics would change the child’s response to cystic fibrosis. In short what I remember from nursing school is that cystic fibrosis is a genetic disorder which is an autosomal recessive gene that is carried by both the mother and the father. The abnormality occurs in chromosome 7 which is where creates an inability to transport small molecules across the cell’s membrane, which in turn, dehydrates the cells of the epithelium and this then creates dry secretion. This is a broad overview of what this disease is, but I will go into further detail below.
The Role Genetics Plays in the Disease
Genetics play an important role in this disease, according to an article published in PubMed titled Cystic fibrosis genetics: from molecular understanding to clinical application states that due to a defective epithelial cell that is defective, this cell is inherited and is an autosomal recessive gene. The genetic information that is in the cell, which is the recipe for the cell to make proteins (Cutting, 2015). According to Pathophysiology of disease: An introduction to clinical medicine, if a person receives a cystic fibrosis transmembrane conductance regulator gene (CFTCR), or a person can receive two copies of the CFTCR gene. This copy has a mutation of the cystic fibrosis gene, furthermore these two copies of the CFTR gene have stored a mutation which is the on chromosome seven. So, when the recipe is being presented to the cell to be made, the genetic information is then stored into the deoxyribonucleic acid which is known as DNA. This is part of the twenty-three pairs of chromosomes, but on the seventh chromosome, the cystic fibrosis recipe is stored in that chromosome. In the DNA, where the CFTCR gene recipe lives, if there is one copy of the recipe than the gene will not show up in the person but will be a carrier but if there are two copies of the recipe being stored in the chromosome than the cystic fibrosis gene than the person will have cystic fibrosis (McCance at el., 2019).
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Why the Patient is Presenting with the Specific Symptoms Described
The symptoms that the baby presented with were salty skin, periodically patient gets a swollen stomach, and not gaining weight normally. According to an article published Journal of Cystic Fibrosis, titled Inflammation in cystic fibrosis lung disease: Pathogenesis and therapy, the major organ systems that are made up of epithelia. The systems that are being affected in this patient are the sweat glands, liver’s bile duct, and intestines in the gastrointestinal tract. The article goes on to explain that the loss of pancreatic function leads to the patient suffering from malnutrition, and not growing normally. Therefore, the replacement of enzymes is important for this patient to be able to prevent the clogging of the cell because of the inability to breakdown an access amount key nutrient (Cutting, 2015).
The physiologic response to the stimulus presented in the scenario and why you think this response occurred
After reading different sources, I was able to breakdown the pathology behind this patient’s symptoms. This disease starts with the CFTR gene protein being mutated in the chromosome seven, which there are two copies of the recipe, this mutation causes the decrease of chloride acceptance and ion being transported, then this makes the absorption of water to increase which throws off ciliary from completing the job and there is mucus that is dry, this is what causes the skin to be salty of the baby. The stomach inflammation and swelling that is being experienced, is due to the CFTR gene protein not having the right recipe present to the epithelial cell, this is causing malfunction by changing the reabsorption of the sodium, chloride and potassium in the cell, the recipe tells the cell to keep the sodium, chloride and potassium outside of the cell, this causes a back-up of outside of the cell structure and blocks the cell from absorbing the nutrients especially, proteins, fats and vitamins that are fat soluble.
The Cells that are Involved in this Process
The cells that are involved in this process start with the epithelial membranes which are present in the digestive tract, pancreas, airways, and reproductive area. According to an article in Apoptosis Journal, stated that cystic fibrosis is a caused by the dysfunction in the epithelial cell which leads to inflammation and an inability to create homeostasis because of the constant inflammation caused by the CFTR gene. Furthermore, the epithelial cells end up failing and create apoptosis in the epithelial cell because of the inflammation the is created in the endoplasmic reticulum (Soleti at el., 2013).
How another characteristic (e.g., gender, genetics) would change your response
For cystic fibrosis, it is important to understand that this would not be a disease if the parents did not carry the gene. The gene is the CFTR gene mutation, mentioned throughout this paper. According to a study done by Harvard Stem Cell Institute, where a lung cell was isolated to examine the function of the CFTR gene. It was shown in the study that if the ionocytes in the cell are not doing their job because it is expressing CFTR gene in increased levels, then the symptoms are created in the cell (Montoro at el., 2018). This occurs in the form of thick mucus and creates the response in the body that does not allow for the patient to regulate sodium, chloride, and potassium in a normal fashion.
During this journey of studying disease in depth and truly understanding how they work will help in the future of my career. I believe that if screening done at the hospitals before they leave would be beneficial. When parents are informed about the possibility of something occurring and what it means, parents will be empowered and get treatment before or if cystic fibrosis symptoms could show up. Also, encouraging parents to come to their baby checkups, will also allow for the medical staff to ask the right questions and treat the baby early, if they see symptoms. Cystic fibrosis is a challenge some patients may struggle with and it is our job as practitioners to catch things before extreme measures need to be taken.
Cantin, A.M, Hartl, D, Konstan, M and Chmiel, J. (2015). Inflammation in Cystic Fibrosis Lung Disease and Therapy. Journal of Cystic Fibrosis. Retrieved from https://www.cysticfibrosisjournal.com/article/S1569-1993(15)00058-2/fulltext.
Cutting G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application. Nature reviews. Genetics, 16(1), 45–56. https://doi.org/10.1038/nrg3849
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
Montoro D.T., Haber A.L., Biton M. et at. (2018) A Revised Airway Epithlial Heiracrchy Inclues CFTR-Expressing Inoncytes.Nature. DOI: 10.1038/s41586-018-0393-7
Soleti, R., Porro, C., & Martínez, M. C. (2013). Apoptotic process in cystic fibrosis cells. Apoptosis : an international journal on programmed cell death, 18
Cystic Fibrosis and Genetics
Cystic fibrosis (CF) is a genetically inherited disease of the sweat and mucus glands that primarily affects the pulmonary system and gastrointestinal (GI) tract (Mayo Clinic, n.d). Each person receives one cystic fibrosis transmembrane conductance regulator (CFTR) gene that is passed from the father and mother resulting in two total CFTR genes (CDC, n.d.). CF is a recessive disorder which means that both parents must pass the defective gene for the child to have CF (McCance & Huether, 2019). If just one parent passes the defective gene, the child will be a carrier and have the possibility of passing to their children (McCance & Huether, 2019). There is a 25% chance that future children will either have CF or not have CF and a 50% chance that they could be carriers of CF.
Patients with CF have a defective CFTR protein that is unable to transport chloride (an element in salt) to the cell surface (Cystic Fibrosis Foundation, n.d.). When salt cannot move through the cells as it normally should, higher amounts of salt are found on the skin resulting in a salty taste (Cystic Fibrosis Foundation, n.d.). Salt and water typically travel together through the body, but in CF this balance in the cells is disrupted and there is a lack of water due to the defective CFTR protein which causes thick and sticky secretions in the affected organs. The baby’s bloating is caused by these thickened secretions that can block the ducts in the pancreas and cause irregular bowel movements, pain, cramping, and even intestinal blockages (Cystic Fibrosis Foundation, n.d.). When the pancreas has obstructed ducts, it prevents the movement of pancreatic enzymes through the digestive tract which causes problems with the absorption of needed nutrients for proper growth of the baby (McCance & Huether, 2019).
Physiologic Response to Stimulus
The pancreatic ducts get clogged by the thicker secretions and this causes a decrease in the digestive enzymes that are secreted by the pancreas. When there are not enough digestive enzymes to properly break down the food, there is a problem absorbing nutrients needed for proper growth such as fats, proteins, and fat-soluble vitamins such as A, D, E, and K (Cystic Fibrosis Foundation, n.d.). Incomplete digestion leads to bloating, cramping, diarrhea, vitamin deficiency, and difficulty gaining weight.
Epithelial cells are largely responsible for ion and fluid absorption and secretion (Saint-Criq, & Gray, 2017). In patients with CFTR protein defects, there are problems with sodium, chloride, and water absorption and secretion. The chloride can not be transported correctly which causes an imbalance between the electrolytes and water and ultimately leads to thickened secretions that cause problems throughout the organs.
More information is needed related to race, as Caucasians have a higher risk of developing CF, and African Americans, Asians, and Hispanics have a lower risk (Cystic Fibrosis Foundation, n.d.). Having a sibling, cousin, or other close family members also increases the risk of CF (Cystic Fibrosis Foundation, n.d.). In this scenario, it seems the older sibling may also have CF, but further testing is needed for proper diagnosis.
Cystic Fibrosis. (n.d.). CDC. https://www.cdc.gov/genomics/disease/cystic_fibrosis.htm.
Cystic fibrosis – Symptoms and causes – Mayo Clinic. (2021). https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700.
McCance, K. L., & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.).
Saint-Criq, V., & Gray, M. A. (2017). Role of CFTR in epithelial physiology. Cellular and molecular life sciences: CMLS, 74(1), 93–115. https://doi.org/10.1007/s00018-016-2391-y
Cystic Fibrosis (CF) disease involves the inheritance of an autosomal recessive trait relating to a single gene received from both parents affecting organs systemically; however, the respiratory and digestive systems are most distressed (Yajuan et al., 2021). European civilization tends to show the highest rate of CF gene mutation (Huether & McCance, 2019). Research provides children born to Caucasian parents have a 1 in 2,500 probability of inheriting the CF gene (Yajaun et al., 2021). The CFTR protein mutation can vary amongst populations; nevertheless, a commonality involves a mutation copy presently homozygously (Yajaun et al., 2021). There is a disruption in the charges of the positive sodium and negative chloride ions resulting from a mutation within the CF transmembrane conductance regulators (Huether & McCance, 2019). Sodium and chloride ions are critical in the transport and reabsorption of tissue water, necessitating mucus fluidity (Huether & McCance, 2019). Mucus fluidity promotes ease of organ and tissue functioning within the body.
Evaluation of the infant case study involving salty skin and a swollen belly post meals is indicative of CF versus colic. Pathophysiologically, epithelial cells yield the CFTR protein mutation resulting from the CF gene (Natochin et al., 2020). These cellular proteins inhabit the digestive tract, lungs, sweat glands, and genitourinary system accountable for water and salt balance throughout the body’s cells. The cellular abnormality is relative to the mutation as the CFTR protein inhibits the channeling of the steady removal of sodium and chloride filtration balance, promoting stasis, viscosity, and desiccation of secretions (Natochin et al., 2020). Aforementioned, CF disturbs the sweat glands and disrupts sodium movement within cells instigating obstruction. Damage to cilia from immobility causes mucus, bacterial and other microorganism attachment. Water and sodium penetrate the skin’s surface with impaired reabsorption, yielding the Mother stating the baby tastes salty when kissed.
The infant’s belly pain from severe constipation is a related symptom of CF. Other bowel manifestations can include bloating, nausea, loss of appetite, distended abdomen, pale foul-smelling stools, increased gas, and weight loss (Coffey et al., 2020). The Mother reports the baby has a good appetite, however no weight gain. CF involves fat, fat-soluble vitamins, and protein malabsorption resulting in the faulty manufacture of pancreatic enzymes (Coffey et al., 2020). The infant sustains compromised pancreatic function resulting in poor nutrient absorption lacking a healthy weight gain. Education of pancreatic enzyme replacement therapy (PERT) is paramount.
The Mother must test her child for CF. The reported chest congestion may be due to the CF and undiagnosed thus far. The mentioned respiratory tract infection or pneumonia equates to the impairment in airway clearance directly contributive to the hospitalization (Kirst et al., 2019). Studies show that women are more likely to suffer this illness than men due to hormone differences (Natochin et al., 2020). The hormone variation may explain the 23-month old being asymptomatic longer than the six-month-old. Carrier screening education is necessary for the Mother and Father with additional children consideration as both children suffer CF. Genetic counseling would be beneficial to this couple. Options of accepting the risks, adoption, in-vitro fertilization using pre-implantation genetic diagnosing will be helpful if both partners are positive with the CF mutation. The practitioner must show diligence and reliability in apprising and educating the patient directly concerning future pregnancies.
Coffey, M., Low, J., Stelzer-Braid, I., Wemheuer, S., Bernd, G., Millie, T., Torsten, J., Adam, R.,
William D., & Ooi, C. (2020). The intestinal virome in children with cystic fibrosis differs from healthy controls. PLoS ONE. [s.l.], 15(5), p. 1-17. https://search.ebscohost.com/login.aspx?direct=true&AuthType=shib&db=a9h&AN=143389250&site=eds-live&scope=site. Acesso em: 3 mar. 2022. DOI 10.1371/journal.pone.0233557. Disponível em:
Huether, S.E., & McCance, K.L. (2019).
Pathophysiology: the biologic basis for disease in adults and children. St. Louis, Missouri: Elsevier.
Kirst, M. E., Baker, D., Li, E., Abu-Hasan, M., & Wang, G.P. (2019).
Upper versus lower airway microbiome and metagenome in children with cystic fibrosis and their correlation with lung inflammation. PLoS ONE. 14(9), p. 1-15. https://search.ebscohost.com/login.aspx?direct=true&AuthType=shib&db=a9h&AN=138707607&site=eds-live&scope=site. Acesso em: DOI 10.1371/journal.pone.0222323.
Natochin, Y.V., Kuznetsova, A., Prokopenko, A.V., Milani,G., Lava, S., &
Marina, A.S. (2020). Osmoregulation in children with cystic fibrosis. European Journal of Pediatrics.179(5), p.835-838. https://search.ebscohost.com/login.aspx?direct=true&AuthType=shib&db=a9h&AN=142738231&site=eds-live&scope=site. DOI 10.1007/s00431-019-03550-1.
Yajuan, C., Jinfeng, S., Kunling, H., Jianhua, L., Wenshan, L., & Baochi, L. (2021).
Analysis of clinical manifestations, imaging features, and gene mutation characteristics of 6 children with cystic fibrosis in China. Evidence-Based, Complementary, and Alternative Medicine. [s.l.], p. 1-12, https://search.ebscohost.com/login.aspx?direct=true&AuthType=shib&db=rzh&AN=153370774&site=eds-live&scope=site. Acesso em: 3 mar. 2022. doi.10.1155/2021/7254391