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

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:

1. 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.
2. 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.
3. Wheezing and shortness of breath: Obstruction of the airways can cause wheezing and shortness of breath, especially during physical activity or exercise.
4. 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.
5. Foul-smelling stools: The digestive problems caused by CF can result in foul-smelling stools that are bulky, greasy, and difficult to flush.
6. Infertility: Men with CF may have a reduced sperm count, and women with CF may experience fertility problems due to thickened cervical mucus.
7. 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.

Malabsorption Syndrome

Malabsorption syndrome is a complex medical condition that affects the body’s ability to absorb nutrients from the digestive system. It encompasses various disorders that impair the absorption of vital substances such as proteins, fats, carbohydrates, vitamins, and minerals. In this article, we will delve into the details of malabsorption syndrome, exploring its types, symptoms, diagnosis, treatment options, management strategies, potential complications, and future research avenues.

Introduction to Malabsorption Syndrome

Malabsorption syndrome is characterized by the impaired absorption of nutrients in the gastrointestinal tract, leading to malnutrition and a wide range of symptoms. It can be caused by numerous factors, including digestive disorders, surgical interventions, medications, and genetic abnormalities. The condition affects people of all ages, and its symptoms can significantly impact an individual’s quality of life.

Types of Malabsorption Syndromes

Celiac Disease

One of the most well-known malabsorption syndromes is celiac disease, an autoimmune disorder triggered by gluten ingestion. Gluten, a protein found in wheat, barley, and rye, damages the small intestine, hindering the absorption of nutrients. Common symptoms of celiac disease include chronic diarrhea, abdominal pain, and weight loss.

Lactose Intolerance

Lactose intolerance is another prevalent malabsorption syndrome characterized by the body’s inability to digest lactose, a sugar found in milk and dairy products. People with lactose intolerance lack the enzyme lactase, which breaks down lactose. Symptoms may include bloating, gas, and diarrhea after consuming dairy products.

Pancreatic Insufficiency

Pancreatic insufficiency occurs when the pancreas fails to produce adequate digestive enzymes, impairing the breakdown and absorption of fats, proteins, and carbohydrates. Chronic pancreatitis, cystic fibrosis, and pancreatic cancer can lead to this condition. Symptoms include oily stools, weight loss, and nutritional deficiencies.

Bile Acid Malabsorption

Bile acid malabsorption is characterized by the impaired reabsorption of bile acids in the intestine, disrupting the digestion and absorption of fats. This can result from various conditions, such as Crohn’s disease, gallbladder removal surgery, or certain medications. Symptoms often include chronic diarrhea and steatorrhea (fatty stools).

Signs and Symptoms of Malabsorption Syndrome

Malabsorption syndrome presents with a variety of symptoms, which may vary depending on the underlying cause and severity of the condition. Common signs include chronic diarrhea, abdominal pain, bloating, weight loss, and malnutrition. Additionally, deficiencies in specific vitamins and minerals can manifest as a range of symptoms, such as anemia, muscle weakness, and neurological issues.

Diagnosis of Malabsorption Syndrome

The diagnosis of malabsorption syndrome involves a comprehensive approach, considering the patient’s medical history, physical examination, and various diagnostic tests. Healthcare providers may order blood work to assess nutrient levels, stool tests to evaluate digestive function, imaging tests to visualize the intestines, and specialized procedures like endoscopy and biopsy to confirm the diagnosis and identify the underlying cause.

Treatment Options for Malabsorption Syndrome

Treatment for malabsorption syndrome aims to address the underlying cause, alleviate symptoms, and improve nutrient absorption. Depending on the specific type of malabsorption, treatment options may include dietary modifications, nutritional supplements, enzyme replacement therapy, medications targeting the underlying condition, and in some cases, surgical interventions to restore digestive function.

Managing Malabsorption Syndrome in Daily Life

Managing malabsorption syndrome requires a multidisciplinary approach involving healthcare professionals and lifestyle modifications. Patients are encouraged to follow a healthy and balanced diet, with guidance from a registered dietitian, to ensure they meet their nutritional needs. Regular follow-up with healthcare providers is crucial to monitor the condition, adjust treatment if necessary, and address any complications or deficiencies.

Potential Complications of Malabsorption Syndrome

If left untreated or poorly managed, malabsorption syndrome can lead to several complications. Electrolyte imbalances, such as low levels of potassium and magnesium, may arise due to chronic diarrhea. Osteoporosis and bone fractures can result from calcium and vitamin D deficiencies. Anemia and blood-related problems may occur due to iron or vitamin B12 deficiencies. Children with malabsorption may experience growth and developmental delays.

Future Research and Advances in Malabsorption Syndrome

Ongoing research is focused on advancing our understanding of malabsorption syndrome and developing innovative treatment approaches. Current studies explore the role of the gut microbiome in nutrient absorption and the impact of personalized medicine based on genetic factors. The identification of new therapeutic targets and interventions may revolutionize the management of malabsorption syndrome in the future.

Conclusion

Malabsorption syndrome encompasses a range of disorders that affect nutrient absorption in the digestive system. Understanding the various types, symptoms, diagnosis methods, and treatment options is crucial for patients, healthcare professionals, and caregivers. With proper management, including dietary modifications, medical interventions, and regular monitoring, individuals with malabsorption syndrome can improve their quality of life and effectively address nutritional deficiencies.

Frequently Asked Questions (FAQs)

1. Can malabsorption syndrome be cured completely? Unfortunately, complete cure of malabsorption syndrome depends on the underlying cause. However, with proper management and treatment, symptoms can be alleviated, and individuals can lead a healthy and fulfilling life.
2. Are there any specific dietary restrictions for malabsorption syndrome? Dietary restrictions may vary depending on the specific type and underlying cause of malabsorption syndrome. It is best to consult with a registered dietitian who can create a personalized diet plan tailored to your needs.
3. Can malabsorption syndrome affect children? Yes, malabsorption syndrome can affect children. It is important to monitor their growth and development closely and seek medical attention if there are any concerns regarding their nutrition or digestive health.
4. How long does it take to diagnose malabsorption syndrome? The diagnosis of malabsorption syndrome may take time as it involves a thorough evaluation of medical history, physical examination, and various diagnostic tests. The duration can vary depending on the individual case and the availability of specific tests.
5. What are the main differences between celiac disease and other malabsorption syndromes? While celiac disease is specifically triggered by gluten ingestion and causes damage to the small intestine, other malabsorption syndromes can have different underlying causes and affect the absorption of various nutrients. It is essential to consult with a healthcare provider for an accurate diagnosis and appropriate management.