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.
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a selection of your colleagues’ responses.
BY DAY 6 OF WEEK 1
Respond
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2 different days
and respectfully agree or disagree with your colleague’s assessment and explain your reasoning. In your explanation, include why their explanations make physiological sense or why they do not.
Note:
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Kadiatu Fofanah
Kadiatu Fofanah
Nov 28, 2022
Nov 28, 2022 at 1:53pm
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We nurses must know how medications operate, their side effects, contraindications, and indications, and watch for predicted effects and situations that may alter, inhibit, or even cause a life-threatening reaction. I recall in nursing school how we always brought our drug handbook and did drug studies for each patient’s meds. We were educated to examine drug action, side effects, patient family training, and the seven rights of medicine administration. Pharmacokinetics shows the drug’s journey from intake to excretion. Pharmacodynamics shows the body’s response to that medicine. Acetaminophen is usually given orally to individuals with fever or pain, then metabolized and eliminated. Acetaminophen is processed by the liver, so we should be careful while giving it to liver patients. Acetaminophen reduces fever and pain, reflecting pharmacodynamics.
I admitted a male African-American patient a year ago with chest pain, body malaise, hypotension, tachycardia, disorientation, and brown urine. The first diagnosis was rhabdomyolysis R/O sepsis. We suspected liver disease due to the patient’s jaundice and low hemoglobin. After hydration, blood transfusion, and antibiotic treatment, patient stabilized, oriented, and spoke. During grand rounds, he told us he took 325mg of aspirin for chest trouble and went downhill from there. A quick fluorescent spot test, G6PD enzyme test, and 6-hour CBC were recommended by one doctor. Patient has G6PD deficiency, but is unaware. The patient doesn’t know if he underwent neonatal screening or was notified of any abnormalities. As a G6PD deficient person, he was smart enough to take aspirin for his chest problems, but it had a negative effect on him.
The above situation is an example of an idiosyncratic effect, which is a genetically predisposed pharmacological response (Rosenthal, 2021). Aspirin, acetaminophen, anti-malarials, and sulfonamides can cause mild to life-threatening RBC hemolysis in people with G6P deficiency (Frank, 2005). (Rosenthal, 2021).
Disease G6PD Background
G6PD insufficiency, the world’s most common enzyme deficit, causes RBCs to malfunction and break down faster (Bubp, Jen, Matuszewski,2015). This causes neonatal hyperbilirubinemia, acute hemolysis, and chronic hemolysis (Frank,2005). Hemolytic anemia is G6PD deficiency’s most dangerous symptom. Fatigue, back pain, tachypnea, tachycardia, and jaundice are other symptoms.
Contributors
G6PD affects 10% of American Blacks, regardless of ethnicity or gender. Males are more likely to develop symptomatic G6PD deficiency, a recessive X-linked condition (Kumar, Abbas, Fausto, Aster,2010).
Care plan
I needed to work well with the healthcare staff to help this patient recover and prevent sickness. The patient needs extensive collaborative discharge education given his condition.
Assessment – evaluate patient understanding of the disease, its process, triggers, and emergency procedures. The patient’s health education depth and type will be measured by this. Goal-setting.
Plan—after gathering information, we may decide who, how, where, and when to educate health. Educational participants? The how is the strategy in rendering the schooling. Where and when is execution? This is a collaboration of health care team for patient betterment. Goal-setting. Planned:
Medication/s – learning from his experience, there were several medications he needed to avoid, so he worked with the pharmacist to give a list and advise his PCP. This is crucial to avoid his hospitalization issues.
Disease education – even with G6PD deficiency, health education can optimize health if he avoids trigger foods and medications. Also, via education we build self-awareness.
Referrals – asking the attending Physician to refer him to a specialist: geneticist or Hematologist. Referral to G6PD deficient patients, families, and friends support group for help, support, information, and hope.
Nutrition and dietician – ask for a food list that needs to be avoided to prevent occurrence of trigger a. Miscellaneous – Flagging his medical record as a G6PD deficient patient will alert doctors to avoid certain medications if he is readmitted. Like in an allergy flag, that inhibits the physician from ordering medications that patient/s is are allergic hence, minimizing the occurrence of adverse reaction and medication error.
Implementation — execution of the plan. It’s crucial to introduce the strategy one at a time to avoid overwhelming the patient. Thus, the patient can absorb and retain information.
Evaluation – Determine if this patient’s aim was achieved. The goal is to educate the patient so he doesn’t relapse, and testing his knowledge by his capacity to express what triggers are and how to avoid them, attend his recommendation from doctors, and obtain support from support groups is one way to tell if he understands health education. This care plan may have been a terrific chance. While it was saddening to know that after 3 days of working with the patient, he was transferred to the city hospital for further evaluation, it was a very challenging opportunity for me to determine how some medication works, interacts, and manifests itself in patients with unknown underlying conditions.
References:
Bubp, Jeff, et al. “Caring for Glucose-6-Phosphate Dehydrogenase (G6PD)-Deficient Patients:
Implications for Pharmacy.” P & T : a Peer-Reviewed Journal for Formulary Management,
MediMedia USA, Inc., Sept. 2015, www.ncbi.nlm.nih.gov/pmc/articles/PMC4571844/.
Frank, Jennifer E. “Diagnosis and Management of G6PD Deficiency.” American Family Physician, 1 Oct.
2005, www.aafp.org/afp/2005/1001/p1277.html.
Huether, Sue E., et al. Understanding Pathophysiology. Elsevier, 2017.
Kumar, Vinay, et al. Robbins and Cotran Pathologic Basis of Disease. Saunders/Elsevier, 2010.
Rosenthal, Laura D., and Jacqueline Rosenjack Burchum. Lehne’s Pharmacotherapeutics for Advanced
Practice Nurses and Physician Assistants. Elsevier, 2021.
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Jennifer Tran
Jennifer Tran
Nov 30, 2022
Nov 30, 2022 at 2:01pm
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Hi Kadiatu. Thank you for the well written informative piece. Please check in your inbox on CANVAS. Thank you.
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Sherwin Jackson
Sherwin Jackson
Dec 2, 2022
Dec 2, 2022 at 11:47pm
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Kadiatu Smith
This is a very informative discussion that looks at a typical case study of the drug effects of a patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency. It describes an idiosyncratic effect when the patient in the case study takes aspirin for chest pain and develops complications without knowing he has G6PD deficiency. Glucose-6-phosphate dehydrogenase deficiency is an enzyme in all body cells’ cytoplasm. It plays an important role in preventing cellular damage from reactive oxygen species by providing substrates that prevent oxidative damage (S. Russ Richardson & O’Malley, 2019). With the deficiency, aspirin may induce mild to life-threatening red blood cell hemolysis due to the absence of protective substrates preventing damage to the cells, as was the case in the case study provided. The discussion provides a well-reasoned care plan and treatment plan to ensure the patient’s recovery. From the study, the patient was well managed due to the swift response by the healthcare team to investigate a fluorescent spot test, G6PD enzyme test, and a 6-hour CBC that enabled the diagnosis of G6PD deficiency to be made.
References
Russ Richardson, & O’Malley, G. F. (2019, May 2).
Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency
. Nih.gov; StatPearls Publishing.
https://www.ncbi.nlm.nih.gov/books/NBK470315/
Links to an external site.
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Sherwin Jackson
Sherwin Jackson
Dec 9, 2022
Dec 9, 2022 at 10:05am
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Kadiatu Smith
This is a very informative discussion that looks at a typical case study of the drug effects of a patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency. It describes an idiosyncratic effect when the patient in the case study takes aspirin for chest pain and develops complications without knowing he has G6PD deficiency. Glucose-6-phosphate dehydrogenase deficiency is an enzyme in all body cells’ cytoplasm. It plays an important role in preventing cellular damage from reactive oxygen species by providing substrates that prevent oxidative damage (S. Russ Richardson & O’Malley, 2019). With the deficiency, aspirin may induce mild to life-threatening red blood cell hemolysis due to the absence of protective substrates preventing damage to the cells, as was the case in the case study provided. The discussion provides a well-reasoned care plan and treatment plan to ensure the patient’s recovery. From the study, the patient was well managed due to the swift response by the healthcare team to investigate a fluorescent spot test, G6PD enzyme test, and a 6-hour CBC that enabled the diagnosis of G6PD deficiency to be made.
References
Russ Richardson, & O’Malley, G. F. (2019, May 2).
Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency
. Nih.gov; StatPearls Publishing.
https://www.ncbi.nlm.nih.gov/books/NBK470315/
Links to an external site.
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Tyesha L Sullivan
Tyesha L Sullivan
Nov 29, 2022
Nov 29, 2022 at 11:27am
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Everyone is expected to eat healthy meals and benefits include obtaining vitamins and minerals the foods contain. When our bodies fail to absorb the vitamins and minerals this causes malabsorption and can lead to problems throughout the body systems. In this case study, the 83-year-old resident has symptoms of malabsorption with generalized edema and protein malnutrition. According to McCance & Huether (2019), malabsorption is the failure of the intestinal mucosa to absorb the digested nutrients. Malabsorption syndrome is thought to be genetic in nature. This is because one of the malabsorption syndromes conditions (hereditary folate malabsorption) is an inherited condition characterized by a systemic and central nervous system.
The patient is presenting with generalized edema to the extremities and abdomen due to the lack of protein in the body (Malabsorption Syndrome: Causes, Symptoms, and Risk Factors, 2020). The deficiency of protein caused the water and salt to leak out of the cells. The physiologic response to the malabsorption syndrome is causing the swelling of the abdomen due to fluid being trapped in the patient’s tissues. This fluid can be the cause of the patient’s lack of appetite also. The cells affected in this disease are the mucosal cells of the small intestine. Malabsorption affects different groups differently. My response would differ based on gender and age. For example, malabsorption In women, it stops the menstruation, and in children, stunted growth is observed.
References
Malabsorption Syndrome: Causes, Symptoms, and Risk Factors. (2020). Retrieved 29 November 2022, from
https://www.healthline.com/health/malabsorption
Links to an external site.
McCance, K. L. & Huether, S. E. (2019).
Pathophysiology: The biologic basis for disease in adults and children
(8th ed.). St. Louis, MO: Mosby/Elsevier.
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Jennifer Tran
Jennifer Tran
Nov 29, 2022
Nov 29, 2022 at 12:45pm
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Hi Tyesha. Thank you for your informative post. Correct, malabsorption refers to impaired absorption of nutrients. With that said, it encompasses defects that occur during digestion and absorption of nutrients from food. Other differential diagnoses that can cause malabsorption are celiac disease, Crohn’s disease, lactose intolerance, etc. (McCance, 2019)
The digestion and absorption of food are divided into three major phases, and they are luminal, mucosal, and postabsorptive. In the luminal phase, proteins, fats, and carbohydrates are hydrolyzed and solubilized by secreted digestive enzymes and bile. The mucosal phase transport digested products into the cells. Finally, the postabsorptive phase transports the nutrients and lipids via the lymphatics and portal circulation from epithelial cells to other body parts. When there is a problem in any of these phases, one will end up with a malabsorption problem, just like in this case study (McCance, 2019). Which phase do you think is affected by this patient?
Reference:
McCance, K. L. & Huether, S. E. (2019).
Pathophysiology: The biologic basis for disease in adults and children
(8th ed.). St. Louis, MO: Mosby/Elsevier.
Edited by
Jennifer Tran
on Nov 29, 2022 at 12:46pm
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Tyesha L Sullivan
Tyesha L Sullivan
Nov 30, 2022
Nov 30, 2022 at 6:23pm
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Hello Professor Tran,
In the case study the patient is said to have protein malnutrition. I believe the phase of the absorption that the patient is affected by is the luminal phase. Would this be correct?
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Jennifer Tran
Jennifer Tran
Dec 1, 2022
Dec 1, 2022 at 7:49pm
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Hi Tyesha. Yes, that is correct! Great job!
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Nazmi Hamid
Nazmi Hamid
Dec 1, 2022
Dec 1, 2022 at 6:29pm
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Hello Tyesha,
Great informative post. The patient’s malabsorption does lead to edema from lack of protein absorption into the body leading to hypoalbuminemia. (Hammami, 2019). Lack of dentures was also part of the scenario that can cause potential nutrient deficiency due to inability to chew and eat. Aside from the protein deficiency, malabsorption syndrome can cause neurological problems due to lack of vitamins and minerals. (Patnayak, 2016).
Hammami, M. B. (2019). Malabsorption Clinical Presentation.
Medscape.
https://emedicine.medscape.com/article/180785-clinical#:~:text=Edema,protein%20depletion%2C%20ascites%20may%20develop
Links to an external site.
.
Patnayak, R., Suresh , V., Jena, A., Madhu, K., Phaneendra, B. V., & Reddy, V. (2016). The Maladies of Malabsorption.
Journal of pediatric neurosciences, 11(1), 74.
https://go.gale.com/ps/i.do?p=EAIM&u=minn4020&id=GALE%7CA450875872&v=2.1&it=r&sid=ebsco
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Lucy Kelechi Ukachukwu
Lucy Kelechi Ukachukwu
Dec 1, 2022
Dec 1, 2022 at 9:51pm
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Good job Tyesha, I want to add that sometimes it is difficult to establish how genetics causes certain diseases in some situations, in our case study scenario, it is difficult to figure out genetics in this patient’s case (Koepsell, 2020). Malabsorption can be a result of various factors including medical conditions, infections, drugs use, and sometimes even surgical procedures. Malabsorption syndrome usually hinders food from being absorbed from the small intestine. There is also infant malnutrition linked to genetics that is inherited from the mother which is usually associated with a lack of nourishment throughout the gestational period (Noguchi & Takahashi, 2019).
References
Koepsell, H. (2020). Glucose transporters in the small intestine in health and disease. Pflügers Archiv-European Journal of Physiology, 472(9), 1207-1248.
Noguchi, A., & Takahashi, T. (2019). Overview of symptoms and treatment for lysinuric protein intolerance.
Journal of Human Genetics
,
64
(9), 849-858.
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Miriam C. Okochi
Miriam C. Okochi
Dec 2, 2022
Dec 2, 2022 at 2:33am
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Hi Tyesha,
I definitely agree with you. The patient’s history of Malabsorption Syndrome makes it difficult for the patient to absorb the nutrition he needs. However, it is important that we do not solely look at his past history and determine that as the cause for his protein malnutrition. Looking at more specific factors such as his age, diet, and difficulty with eating due to lack of dentures should also be considered. It is important to ask key questions when gathering the patient’s history and perform a focused physical exam to help create a more targeted approach in diagnosing the patient’s condition (Zuvarox & Belletieri, 2022). Both folate and protein are absorbed in the small intestine along with other nutritional requirements needed by the body. Knowing exactly what nutritional deficits are lacking in the body and where they are absorbed will help in treating the condition. For example, we have determined that the focus of the patients malabsorption is in the small intestines. Studies have showed that probiotic supplements that contain lactic acid bacteria and Bifidobacterium are effective in reducing nutrient malabsorption, improving intestinal barrier, and decreasing disease related pathologies (Judkins, 2020).
References
Judkins, T. C., Archer, D. L., Kramer, D. C., & Solch, R. J. (2020). Probiotics, nutrition, and the small intestine. Current Gastroenterology Reports, 22(1).
https://doi.org/10.1007/s11894-019-0740-3
Links to an external site.
Zuvarox, T., & Belletieri, C. (2022). Malabsorption Syndromes. National Center for Biotechnology Information. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK553106/
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Tarik Maurice Hyams
Tarik Maurice Hyams
Dec 2, 2022
Dec 2, 2022 at 11:10am
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Tyesha, thank you for the post. I agree with your assessment. My mother suffered from malabsorption syndrome. Shortly before she died of pancreatic and liver disease, we saw that her albumin was low upon review of her labs. She also suffered from poor entero-hepatic circulation, meaning she did not have the proper hydrolyzes to break down and package the nutrients for proper absorption and sustained abdominal distention and irritation to the stomach lining from unabsorbed fatty acids. “Electrolyte imbalance is common, and cramping and abdominal distention are common with malabsorption syndromes” (Montoro-Huguet et al., 2021). She was also under radiation therapy, which injured the lining of her intestine, contributing to her condition and the co-morbidities of protein malnutrition.
She also had a cultural component that her background took being thin as an indicator of health. These types of knowledge deficits can be addressed by the advanced practice ready nurse to better educate and inform patients on ways to improve their health equity. We believe her lack of protein intake may have accelerated her decline by walking into this diagnosis with anemia and malaise due to inadequate protein intake and ultimate absorption of vital nutrients such as iron, and folic acid. “Protein malnutrition is common in the elderly” (Zhao & Andreyeva, 2022). Moreover, it could be seen as an epidemic if we give it the attention it deserves.
References-
Montoro-Huguet MA, Belloc B, Domínguez-Cajal M. Small and Large Intestine (I):Malabsorption of Nutrients. Nutrients. 2021 Apr 11;13(4):1254. doi: 10.3390/nu13041254. PMID: 33920345; PMCID: PMC8070135.
Zhao H, Andreyeva T. Diet Quality and Health in Older Americans. Nutrients. 2022Mar 11;14(6):1198. doi: 10.3390/nu14061198. PMID: 35334855; PMCID: PMC8955752.
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Brandy Lynn Taillefer
Brandy Lynn Taillefer
Dec 2, 2022
Dec 2, 2022 at 6:04pm
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Hi Tyesha,
Great post, I came to many of the same conclusions myself. I was curious about some of the patients background though, especially their medication history. If I had access to their medication list that may alter my perception about the cause of the malabsorption syndrome the patient was experiencing. Weiss teaches us that the use of laxatives may be impair the ability of the body to absorb proper nutrients from the oral intake we have (2021). Kerr also teaches is that certain medications can cause damage to the intestinal lining (2022), this could lead to malabsorption as the damage to the lining could make it difficult to absorb nutrients as well. Do you think that if we had a little more information about the patient that one of these things could play a role in the patients symptoms?
Resources:
Kerr, M. (2022, June 2).
Malabsorption Syndrome
. Healthline. https://www.healthline.com/health/malabsorption
Weiss, T. C. (2021, July 3).
Taking Too Many Laxatives Danger to Health
. Disabled World. https://www.disabled-world.com/health/digestive/laxatives.php
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Lixiang Li
Lixiang Li
Dec 2, 2022
Dec 2, 2022 at 10:51pm
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HI Tyesha,
I enjoy reading your post. According to Clark and Johnson (2018), malabsorption is impaired absorption of nutrients
caused by alterations of intestinal mucosa, such as Crohn disease, Celiac disease, lactose intolerance, small intestinal bacterial overgrowth, pernicious anemia. Malabsorption can result from congenital defects, from surgery, or from genetic factor. Celiac disease is an autoimmune disease that its own antibodies attack and damage the small intestinal villous epithelium when ingestion of food contains gluten (McCane & Huether, 2019). However, from the scenario, the 83 years old has history of malabsorption syndrome, but it is hard to say the malabsorption is caused by genetics. Pt might be suffering from neglect. May be the resident has cognitive impairment and lack of ability to take care himself.
Reference
McCance, K.L. & Huether, S.E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
Clark, R., & Johnson, R. (2018). Malabsorption Sundromes. Nursing Clinics of North America, 53(3), 361-374. http://doi.org/10.1016/j.cnur.2018.05.001
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Kadiatu Fofanah
Kadiatu Fofanah
Dec 3, 2022
Dec 3, 2022 at 10:04pm
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2ND Response.
Hello Tyesha,
I agree with the post above that malabsorption syndrome is caused by the failure of the intestinal mucosa to absorb the digested nutrients. Malabsorption can have serious consequences such as edema, protein malnutrition, and stunted growth in children. I also agree that the response to malabsorption syndrome can vary depending on gender and age. For example, malabsorption in women can stop menstruation, and in children, stunted growth is observed.
However, I would add that malabsorption syndrome can also be caused by other factors such as Crohn’s disease, celiac disease, pancreatitis, and food intolerances. All of these conditions can disrupt the digestive process and cause malabsorption. Additionally, malabsorption can be caused by medications that reduce the number of digestive enzymes produced by the body.
In addition, I would add that there are several interventions that can be used to treat malabsorption. These interventions include dietary changes, nutritional supplementation, and lifestyle modifications. Dietary changes may include avoiding certain foods that are difficult to digest, or adding more dietary fiber to the diet. Nutritional supplementation may include taking multivitamins, probiotics, and other supplements to improve nutrient absorption. Finally, lifestyle modifications such as exercising more regularly or reducing stress levels may also help improve digestive health.
Overall, I agree with the post that malabsorption syndrome is caused by the failure of the intestinal mucosa to absorb the digested nutrients and that it can affect different groups differently. However, I would also add that there are other causes of malabsorption and that there are several interventions that can be used to treat it.
References
Malabsorption Syndrome: Causes, Symptoms, and Risk Factors. (2020). Retrieved 29 November 2022, from
https://www.healthline.com/health/malabsorption
Links to an external site.
McCance, K. L. & Huether, S. E. (2019).
Pathophysiology: The biologic basis for disease in adults and children
(8th ed.). St. Louis, MO: Mosby/Elsevier.
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Sherwin Jackson
Sherwin Jackson
Dec 9, 2022
Dec 9, 2022 at 10:08am
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Tysha L. Sullivan
The discussion examines malabsorption symptoms, providing a case study of a patient with hereditary folate malabsorption. This is a hereditary condition characterized by folate deficiency, with impaired folate absorption and transportation into the central nervous system. It can result in macrocytic anemia, recurrent infections, and neurological deficits which can manifest with progressive psychomotor retardation, behavioral disorders, and early onset of seizures (Tan et al., 2017). The patient also presented with generalized body edema typical of protein deficiency. Proteins usually play a significant role in maintaining fluids in the blood vessels. Severe protein deficiency results in water retention in the body tissues, which causes edema. The discussion provides typical signs and symptoms of protein deficiency but needs to provide adequate information on folate malabsorption symptoms. It outlines that the effects of the disorder may differ depending on factors such as gender and age. Please provide more information on the management approaches.
References
Tan, J., Li, X., Guo, Y., Xie, L., Wang, J., Ma, J., & Jiang, L. (2017). Hereditary folate malabsorption with a novel mutation on SLC46A1.
Medicine
,
96
(50), e8712.
https://doi.org/10.1097/md.0000000000008712
Links to an external site.
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Nazmi Hamid
Nazmi Hamid
Nov 29, 2022
Nov 29, 2022 at 8:15pm
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Introduction
A healthy individual’s small intestine is able to absorb nutrition, vitamins and minerals that they consume throughout the day, however, in case of 83 year old skilled nursing facility patient, ability to absorb the required nutrition is quite challenging. That is because the patient has a history of Malabsorption Syndrome.
Discussion
The patient who presents to the ED, is displaying symptoms of malabsorption syndrome, symptoms of edema and abdomen. He is also diagnosed with protein malnutrition, which is linked to the history of malabsorption syndrome. MAS is a result of multiple issues with small intestine function and its inability to absorb nutrients. (Patnayak et al., 2016).
MAS can be a genetic given that hereditary folate malabsorption is a genetic condition that causes folate deficiency due to folate absorption in the intestine. (Goldman, 2022). “HFM is inherited in an autosomal recessive manner”. (Goldman, 2022).
Due to the inability to absorb vitamins and minerals and other nutrients such as protein, causing hypoalbuminemia, the patient is retaining fluid in the abdomen as other extremities. (Hammami, 2019). Protein malnutrition diagnosis has been chosen for this patient not only for the inability to absorb nutrients such as protein, the patient also has difficulty eating due to lack of dentures.
Given the MAS is caused in the small intestine, intestinal epithelial cells are involved in this process. According to Patnayak, MAS can cause neurological abnormalities given the inability of vitamin absorption. (2016). Given the onset of the disease, patients can respond differently to the MAS, depending on their age, overall genetic health and hereditary characteristics. Another example of genetics causing malabsorption would be for cancer patients. Those who have predisposition to getting cancer will have to possibly have chemotherapy or radiation which can reduce gastric cell turnover resulting in malabsorption. (McCance & Huether, 2019).
Summary
To conclude, the patient is experiencing symptoms of edema in the extremities and abdomen due to protein malnutrition and hypoalbuminemia. Although it does not state whether his condition is hereditary, it is possible for individuals to inherit the disease autosomal recessive manner. MAS can also cause neurological abnormalities given the lack of certain vitamins and minerals from inability to absorb the content in the small intestine.
Reference
Goldman, I.D., (2022). Hereditary Folate Malabsorption.
National Library of Medicine.
https://www.ncbi.nlm.nih.gov/books/NBK1673/#:~:text=Hereditary%20folate%20malabsorption%20(HFM)%20is,failure%20to%20thrive%2C%20and%20anemia
Links to an external site.
.
Hammami, M. B. (2019). Malabsorption Clinical Presentation.
Medscape.
https://emedicine.medscape.com/article/180785-clinical#:~:text=Edema,protein%20depletion%2C%20ascites%20may%20develop
Links to an external site.
.
McCance, K. L. & Huether, S. E. (2019).
Pathophysiology: The biologic basis for disease in adults and children
(8th ed.). St. Louis, MO: Mosby/Elsevier.
Patnayak, R., Suresh , V., Jena, A., Madhu, K., Phaneendra, B. V., & Reddy, V. (2016). The Maladies of Malabsorption.
Journal of pediatric neurosciences, 11(1), 74.
https://go.gale.com/ps/i.do?p=EAIM&u=minn4020&id=GALE%7CA450875872&v=2.1&it=r&sid=ebsco
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Lucy Kelechi Ukachukwu
Lucy Kelechi Ukachukwu
Dec 2, 2022
Dec 2, 2022 at 12:53pm
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Response #2:
Hello Nazmi,
Your post is very educative. I also read that there is also infant malnutrition linked to genetics that is inherited from the mother which is usually associated with a lack of nourishment throughout the gestational period (Noguchi & Takahashi, 2019). Again I learned that different people have different genetics as per various studies except only for identical twins except that they vary as a result of somatic mutation in the patient’s immune system (Rotoli et al., 2020). Protein malnutrition usually impairs the production and activation of the cells that are in connection with the body’s immunity.
References
Noguchi, A., & Takahashi, T. (2019). Overview of symptoms and treatment for lysinuric protein intolerance.
Journal of Human Genetics
,
64
(9), 849-858.
Rotoli, B. M., Barilli, A., Visigalli, R., Ferrari, F., & Dall’Asta, V. (2020). y+ LAT1 and y+ LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance. Journal of Cellular and Molecular Medicine, 24(1), 921-929.
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Ngun Hleih Par Thang
Ngun Hleih Par Thang
Dec 2, 2022
Dec 2, 2022 at 2:59pm
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Hi Nazmi,
Thank you for your great discussion. I agree with your discussion about the patient history of Malabsorption Syndrome as the leading cause of the current symptoms and diagnosis. Protein deficiency is one of the most straightforward reasons fluids are retained and cause edema, especially in the extremities (Ahel et al., 2015). Given the history of malabsorption syndrome and diagnosis of protein malnutrition, we can conclude that the lowered levels of plasma protein, mainly albumin, cause fluid accumulation in the abdominal cavity and lower extremities (McCance and Huether, 2019). In this scenario, the patient also has difficulty eating due to a lack of dentures and malabsorption. Therefore, the patient is placed at an even higher risk of malnutrition. Also, I agree with your example of genetics causing malabsorption in the cancer patient. Several reasons, such as the disease process or treatment, can increase malabsorption in a cancer patient.
Reference
Ahel, I. B., et al. (2015). Generalized edema with hypoproteinemia as initial presentation of celiac disease in a 3-year-old boy: case report.
Paediatria Croatica
,
59
(3), 181–184.
https://doi.org/10.13112/PC.2015.27
Links to an external site.
McCance, K. L. & Huether, S. E. (2019).
Pathophysiology: The biologic basis for disease in adults and children
(8
th
ed.). St. Louis, MO: Mosby/Elsevier.
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Charlotte Savill
Charlotte Savill
Dec 2, 2022
Dec 2, 2022 at 3:14pm
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Hello Nazmi. When considering nutrition, genetic variability may be at least partly responsible for differences between individuals in the absorption of food, metabolism, enzyme
digestion, biosynthesis, catabolism, transport across cell membranes, uptake by cell receptors,
storage, and excretion (Selber-Hnatiw et al., 2019). It may even affect individual food preferences. The patient in our scenario presented with bilateral edema of the lower and upper extremities as well as the abdomen. Inadequate protein in the diet causes these symptoms because protein aids to hold salt and water inside the blood vessels so fluid does not leak out into the tissues. With starvation or malnutrition, the lowered levels of plasma proteins, particularly albumin, causes fluid to move into the interstitium, otherwise referred to as edema (McCance & Huether, 2019). Great post.
References
McCance, K. L. & Huether, S. E. (2019).
Pathophysiology: The biologic basis for disease in adults and children
(8th ed.). St. Louis, MO: Mosby/Elsevier.
Selber-Hnatiw, S., Sultana, T., Tse, W., Abdollahi, N., Abdullah, S., Al Rahbani, J., … & Gamberi, C. (2020). Metabolic networks of the human gut microbiota.
Microbiology, 166
(2), 96-119. https://doi.org/10.1099/mic.0.000853
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Oluwatomi Odewenwa
Oluwatomi Odewenwa
Dec 2, 2022
Dec 2, 2022 at 4:31pm
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Hi Nazmi,
Thank you for your response on malabsorption. It is evident from your explanation that malabsorption disorder destroys the small intestine interfering with nutrients, vitamins, and mineral absorption. Malabsorption syndrome (MAS) causes protein malnutrition and can lead to abdominal edema (Misselwitz et al.,2019). I agree that MAS can be linked to genetic causes due to the hereditary folate gene inherited in an autosomal manner. Folate helps in the absorption of vitamins and the formation of DNA templates. The inability to absorb essential elements such as protein leads to hypoalbuminemia and results in the patient retaining fluid in the abdomen as in other extremities (Misselwitz et al.,2019). Notably, prolonged MAS continues to deprive the body of significant compounds, and therefore the patient can develop other disorders of the neurological and cardiovascular systems ((Alkaade & Vareedayah, 2017). I agree with choosing a protein diagnostic method to treat the patient, as a lack of dentures may affect the mechanical breakdown of food into digestible particles.
We can agree that Age, gender, and race all influence MAS condition, and individuals will respond differently depending on their Age, overall genetic health, and hereditary characteristics. However, Age was a significant factor in this case study. Elderly patients are at higher risk of developing malabsorption due to decreased stomach acid secretions resulting in a reduced ability to extract vitamin B (Alkaade & Vareedayah, 2017).
References
Alkaade, S., MD, & Vareedayah, A., MD. (2017). A Primer on exocrine pancreatic insufficiency, fat malabsorption, and fatty acid abnormalities.
The American Journal of Managed Care
,
23
(12), 203–209.
Misselwitz, B., Butter, M., Verbeke, K., & Fox, M. R. (2019). Update on lactose malabsorption and intolerance: Pathogenesis, diagnosis, and clinical management.
Gut
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68
(11), 2080–2091.
https://doi.org/10.1136/gutjnl-2019-318404