An 83-year-old resident of a skilled nursing facility presents to the emergency department with generalized edema of extremities and abdomen.
Discussion: Alterations in Cellular Processes
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.
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.
To prepare:
- By Day 1 of this week, you will be assigned to a specific scenario for this Discussion. Please see the “Course Announcements” section of the classroom for your assignment from your Instructor.
Scenario: An 83-year-old resident of a skilled nursing facility presents to the emergency department with generalized edema of extremities and abdomen. History obtained from staff reveals the patient has history of malabsorption syndrome and difficulty eating due to lack of dentures. The patient has been diagnosed with protein malnutrition
By Day 3 of Week 1
Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:
- The role genetics plays in the disease.
- Why the patient is presenting with the specific symptoms described.
- The physiologic response to the stimulus presented in the scenario and why you think this response occurred.
- The cells that are involved in this process.
- How another characteristic (e.g., gender, genetics) would change your response.
Expert Answer and Explanation
Protein Malnutrition Disease and Physiological Response
Role of Genetics
An individual may develop protein malnutrition because of a wide spectrum of factors including their gene structure. Genetics particularly can cause one to develop the disease considering that it influences people’s preferences for certain types of food. This means that depending on one’s genetic composition, one may not like certain foods, and this may cause a scenario in which they only take food rich in non-protein nutrients (McCance & Huether, 2019). This may ultimately cause the deficiency of these nutrients.
Reason for the Symptoms
Based on the case study, the patient has a generalized edema, and there is a possible explanation for this. The albumen protein performs the role of holding salts as well as water. This protein can be found in the blood vessels, and when it is available in short supply, the fluid leak into tissues. Accordingly, this causes one’s abdomen to swell (Coulthard, 2015). The swelling of the extremities can also result from the leakage (McCance & Huether, 2019). Considering the problem with the patient’s dentures, this could be a possible reason for his ill health.
Physiological response
The patient responds physiologically to the stimuli. Due to the decline in the blood’s protein, it becomes difficult for the absorption of the salts and water to occur. In response to this, the patient experiences loss of energy and loss of muscle mass. It is due to the decline in the level of this protein that the patient’s muscle mass reduce (Semba, 2016).
Cells for the Physiological Response
The endothelial cells are responsible for the physiological response which occur in the patient. These cells are important when it comes to the absorption of salts and water. Their role in the regulation of these substances explains why they are important in this response.
Other Factors
Age is a key element that can raise one’s risk of developing the illness.
References
Coulthard M. G. (2015). Oedema in kwashiorkor is caused by hypoalbuminaemia. Paediatrics and international child health, 35(2), 83–89. Doi:https://doi.org/10.1179/2046905514Y.0000000154.
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
Semba R. D. (2016). The Rise and Fall of Protein Malnutrition in Global Health. Annals of nutrition & metabolism, 69(2), 79–88.Doi: https://doi.org/10.1159/000449175.
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Cystic fibrosis
Cystic fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and reproductive systems. It is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which produces a defective protein that disrupts the normal function of cells that produce mucus, sweat, and digestive juices.
CF affects about 30,000 people in the United States and 70,000 worldwide. The disease is most common in people of European descent, but it can affect people of all ethnicities. CF is inherited in an autosomal recessive pattern, which means that a child must inherit a copy of the defective gene from both parents to develop the disease.
The symptoms of CF can vary widely, but they typically involve the lungs and digestive system. People with CF often experience chronic cough, wheezing, shortness of breath, and recurrent lung infections, which can lead to lung damage and respiratory failure over time. They may also have difficulty digesting food, leading to malnutrition and poor growth. Other symptoms may include salty-tasting skin, infertility in men, and delayed puberty in girls.
There is currently no cure for CF, but treatments can help manage the symptoms and improve quality of life. Treatment typically involves a combination of medications, airway clearance techniques, and nutritional therapy. In severe cases, a lung transplant may be necessary.
Research into CF has led to significant advances in understanding the disease and developing new treatments. In recent years, several new drugs have been approved that target the underlying cause of CF, offering hope for improved outcomes and longer survival for people with this condition.
How many introns in CFTR gene?
The CFTR gene, which is associated with cystic fibrosis, contains 27 exons and 26 introns. The introns are non-coding regions of DNA that are transcribed into RNA but are spliced out during the process of mRNA processing. The final mRNA transcript produced from the CFTR gene consists only of the exons, which are then translated into the CFTR protein. Mutations in the CFTR gene can affect the production or function of the CFTR protein, leading to the development of cystic fibrosis.
How many exons does the CFTR gene have?
The CFTR gene has 27 exons. Exons are regions of DNA that contain the genetic information that is transcribed into RNA and ultimately translated into protein. The CFTR gene provides instructions for the production of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which plays a crucial role in the transport of chloride ions across cell membranes. Mutations in the CFTR gene can affect the production or function of the CFTR protein, leading to the development of cystic fibrosis.
Symptoms of cystic fibrosis
Cystic fibrosis (CF) is a genetic disorder that affects various systems in the body, particularly the respiratory, digestive, and reproductive systems. The symptoms of CF can vary from person to person and may become more severe over time. Some common symptoms of cystic fibrosis include:
- Persistent cough: A chronic cough that produces thick mucus is a hallmark symptom of CF. The mucus can obstruct the airways, making it difficult to breathe and increasing the risk of infections.
- Frequent lung infections: People with CF are more prone to lung infections, such as pneumonia and bronchitis. These infections can cause fever, chest pain, and shortness of breath.
- Wheezing and shortness of breath: Obstruction of the airways can cause wheezing and shortness of breath, especially during physical activity or exercise.
- Poor growth and weight gain: CF can affect the ability of the digestive system to absorb nutrients from food, leading to poor growth, weight loss, and malnutrition.
- Foul-smelling stools: The digestive problems caused by CF can result in foul-smelling stools that are bulky, greasy, and difficult to flush.
- Infertility: Men with CF may have a reduced sperm count, and women with CF may experience fertility problems due to thickened cervical mucus.
- Clubbing of fingers and toes: In some cases, people with CF may develop clubbing of their fingers and toes, a condition in which the fingertips and nails become enlarged and rounded.
It’s important to note that not all people with CF will experience all of these symptoms, and the severity of symptoms can vary widely. If you suspect you or a loved one may have CF, it’s important to speak with a healthcare provider for proper diagnosis and treatment.
