NURS 6501 Alterations in Cellular Processes
Protein Malnutrition Sample Paper
This week’s case study is about a client who is 83 years of age and is a skilled nursing amenity resident. The patient presented to the facility with generalized lower limb and abdominal edema. The interaction with the patient revealed a history of malabsorption syndrome and poor feeding from a lack of dentures. Thus, a diagnosis of protein malnutrition was arrived at.
Malnutrition is a serious health crisis resulting in increased morbidity and mortality risk. Broadly, malnutrition can be classified into marasmus, an inadequate supply of energy to meet the body’s requirement, or kwashiorkor, which is the supply of adequate energy with insufficient protein intake (McCance et al., 2019). Classification can also be based on the severity, with malnutrition being classified as mild, moderate, or severe.
Role of Genetics In Protein Malnutrition
Protein malnutrition is etiologically multi-factorial. Its causes include inadequate/improper food intake, impaired absorption, increased gastrointestinal loss of nutrients, increased nutritional needs from various stressors, increased protein loss, and inadequate protein synthesis (Dipasquale et al., 2020). This particular patient’s protein malnutrition is likely due to impaired absorption from the history of the maladaptive syndrome and inadequate food intake based on the difficulty feeding attributed to lack of dentures.
Genetics plays a role in the causation of protein malnutrition. Human genetic variations can alter host genes that impact food absorption and metabolism, including proteins, through many mechanisms. Some studies have identified nutrition-associated genes that influence macronutrient intake, such as FTO and single-nucleotide polymorphism genes, which cause reduced protein intake (Duggal et al., 2018 NURS 6501 Alterations in Cellular Processes). The genetic variation of individuals also determines the gut microbe composition, which may, in turn, contribute to malnutrition.
Reason For Patient’s Presenting Symptoms
The patient came to the emergency department presenting with generalized lower limb edema and abdominal edema. Protein malnutrition is typically characterized by low serum albumin levels due to the decreased synthesis and storage of serum proteins. Low albumin levels lead to an imbalance between oncotic pressure and hydrostatic pressure across vascular walls. Albumin contributes to oncotic pressure, which maintains the intravascular fluid within the blood vessels. Its deficiency thus leads to loss of fluid to the extra-vascular spaces and tissues, which presents clinically as edema.
Physiologic Response To The Stimulus
Reduced oncotic pressure due to low serum albumin level leads to edema from extra-vascular movement of intravascular fluid. In serious cases, this results in intravascular volume depletion, leading to hypovolemia and even shock. The body responds to this by increasing the antidiuretic hormone levels to replace the depleted intravascular fluid. This is achieved by water retention by the renal system through the action of this hormone.
Cells Involved In The Process
Antidiuretic hormone is secreted by the posterior pituitary gland. This hormone acts in the distal renal and collecting tubules and leads to water reabsorption by causing the expression of water transport channels. This leads to intravascular fluid repletion. In addition to decreasing urine output, this hormone also acts on the endothelial cells of blood vessels to cause vasoconstriction in cases of hypotension.
Influence of Other Characteristics
In addition to genetics, several other factors contribute to the development of malnutrition. Aging, for example, has been shown to increase the risk of malnutrition, as is the case with the patient in this study. This is attributed to factors such as lack of dentures, loss of taste, and reduced movement (Besora-Moreno et al., 2020 NURS 6501 Alterations in Cellular Processes). This leads to reduced food intake with resultant malnutrition. This may necessitate measures such as nutritional support and screening of the elderly population for early diagnosis and interventions.
References
- Besora-Moreno, M., Llauradó, E., Tarro, L., & Solà, R. (2020). Social and Economic Factors and Malnutrition or the Risk of Malnutrition in the Elderly: A Systematic Review and Meta-Analysis of Observational Studies. Nutrients, 12(3), 737. https://doi.org/10.3390/nu12030737
- Dipasquale, V., Cucinotta, U., & Romano, C. (2020). Acute Malnutrition in Children: Pathophysiology, Clinical Effects, and Treatment. Nutrients, 12(8), 2413. https://doi.org/10.3390/nu12082413
- Duggal, P., & Petri, W. (2018). Does Malnutrition Have a Genetic Component? Annual Review Of Genomics And Human Genetics, 19(1), 247–262. https://doi.org/10.1146/annurev-genom-083117-021340
- McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier. NURS 6501 Alterations in Cellular Processes
Week 1: Discussion – ALTERATIONS IN CELLULAR PROCESSES INSTRUCTIONS
At its core, pathology is the study of disease. Diseases occur for many reasons. But some, such as cystic fibrosis and Parkinson’s Disease, occur because of alterations that prevent cells from functioning normally. NURS 6501 Alterations in Cellular Processes
Understanding of signals and symptoms of alterations in cellular processes is a critical step in diagnosis and treatment of many diseases. For the Advanced Practice Registered Nurse (APRN), this understanding can also help educate patients and guide them through their treatment plans.
For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and impacts.
NURS 6501 Alterations in Cellular Processes – Cystic Fibrosis
Role of Genetics
The genetic pattern of cystic fibrosis is autosomal recessive. Around one in twenty-five whites have a cystic fibrosis-causing allele in their genome (McCance & Huether, 2019). Although the condition only manifests in homozygous individuals for the recessive gene, carriers do not show any physical signs of illness. A mutation in a chromosomal gene 7 causes cystic fibrosis. About 2,000 documented variations of this gene lead to cystic fibrosis. Mutations in the CFTR gene cause aberrant expression of the CFTR protein, which is responsible for the underlying disease in cystic fibrosis (Olszowiec-Chlebna et al., 2021). The best way to detect the condition before symptoms appear is through newborn screening for cystic fibrosis. As a result of fewer infections, early diagnosis is linked to better growth and less rapid decline in lung function.
Reasons For the Specific Symptoms
In this case, the mother is worried her infant has colic because she is restless after feeding. The early symptoms of cystic fibrosis include an oily appearance of feces and abdominal distention. McCance & Huether (2019) report that pancreatic inadequacies are evident in 85% of people with CF at birth, leading to nutritional impairment and inability to develop for infants and young children. The pancreas is a digestive gland responsible for producing digestive enzymes (Scotet et al., 2020). The child is crying and inability to grow and gain weight despite a healthy appetite may be because CF produces enzyme insufficiency in the pancreas. This, in turn, causes indigestion and nutritional malabsorption.
The Physiologic Response
Since CF causes a malfunction in the body’s chloride and sodium ion pathways, excess sodium and chloride accumulate on the skin’s surface, causing a salty taste when a mother kisses her baby. Chest congestion is another symptom of CF since the disease causes mucus to thicken and build up in the lungs. Chloride ion deficit causes a salt imbalance, which in turn causes the production of excessively thick, dry mucus (Bell et al., 2020). The pancreas and other digestive organs might get blocked, leading to malnutrition, and mucus buildup in the lungs can make them vulnerable to infections like Staphylococcus (McCance & Huether, 2019). Cystic fibrosis lung illness is characterized by mucus clogging, persistent inflammation, and chronic infection of the tiny airways.
Both the respiratory and digestive systems are involved in the clinical symptoms. Chronic respiratory manifestations include a persistent cough, wheezing, increased mucus secretion, and episodes of acute or recurring pneumonia. In the preliminary phases, digital clubbing may manifest; in the asymptomatic phase, the barrel chest or chronic crackles may form (McCance & Huether, 2019). In pulmonary exacerbations, hemoptysis affects about 8 percent of CF patients, and it is estimated that 1 percent of CF individuals will experience a severe hemoptysis incident each year, with an overall mortality risk of between 5.8 and 16 percent in the next two years (De Boeck, 2020).
Cells that are Involved
Epithelial cells, such as those lining the airways, gastrointestinal tract, pancreas, bile duct system, sebaceous glands, and reproductive organs, release a deficient protein called the CF transmembrane regulator when the CF gene is dominant.
Characteristics that Would Change my Response
Inheriting the CF gene and developing the disease manifests similarly in both sexes. If neither parent is a carrier of the CF gene, the child’s manifestations must be due to some other genetic or environmental component (Scotet et al., 2020). Further testing is warranted in such a case. Genetic testing is an integral part of CF diagnosis. It also provides parents with valuable information about the likelihood that they will have a child affected by the disease, which can be used in making vital decisions about their family’s future. A simple blood test can detect carriers. More than a thousand mutations have been identified as causes of cystic fibrosis (Bell et al., 2020).
How well the disease is managed greatly affects the quality and length of life of people with cystic fibrosis. In order to prevent episodes of acute sickness, treatment should aim to maximize function. The goals of these interventions include enhancing nutritional status using pancreatic enzyme supplementation and mineral supplements, managing lung infection effectively, freeing the respiratory system of mucus, and preserving lung function (De Boeck, 2020). The most effective method for accomplishing this is collaborating with a team of healthcare professionals who are all well-versed in treating cystic fibrosis. Pulmonary medicine, infectious disease, and digestive health experts might all be on hand. Nurses play a vital role in patient care and team collaboration.
Conclusion
Cystic fibrosis is one of the most prevalent multifactorial disorders with an allele genetic basis that shortens lifespan. The accumulation of thick, sticky mucus, characteristic of the genetic condition known as cystic fibrosis, can cause significant harm to many different organs. Chronic destruction of the airways and persistent digestive difficulties are the most typical symptoms of the condition. Individuals with cystic fibrosis can live longer and have a higher quality of life attributable to prompt diagnosis and therapy. Characteristics of the condition and the degree to which they manifest differ among those who suffer from it. Cystic fibrosis disrupts a protein called cystic fibrosis transmembrane regulator in the cells. CFTR regulates the passage of water and certain salts into and out of cells. As the passage of salt and water into and out of cells is altered, the mucus that numerous cells would ordinarily produce becomes thicker.
NURS 6501 Alterations in Cellular Processes References
Bell, S. C., Mall, M. A., Gutierrez, H., Macek, M., Madge, S., Davies, J. C., & Ratjen, F. (2020). The future of cystic fibrosis care: A global perspective. The Lancet Respiratory Medicine, 8(1), 65-124. https://doi.org/10.1016/S2213-2600(19)30337-6
De Boeck, K. (2020). Cystic fibrosis in the year 2020: A disease with a new face. Acta Paediatrica, 109(5), 893–899. https://doi.org/10.1111/apa.15155
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
Olszowiec-Chlebna, M., Mospinek, E., & Jerzynska, J. (2021). Impact of newborn screening for cystic fibrosis on clinical outcomes of pediatric patients: 10 years experience in Lodz Voivodship. Italian Journal of Pediatrics, 47, 1-7. https://doi.org/10.1186/s13052-021-01040-5
Scotet, V., L’hostis, C., & Férec, C. (2020). The changing epidemiology of cystic fibrosis: Incidence, survival, and impact of the CFTR gene discovery. Genes, 11(6), 589. https://doi.org/10.3390/genes11060589
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