Question

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.

•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.

need scholar articles to support answers and at a cellular level

Answer 1

ANSWER1: ROLE OF GENE IN MALABSORPTION SYNDROME:

causes of malabsorption can be:

• damage to the intestine from infection, inflammation, trauma, or surgery
• prolonged use of antibiotics
• other conditions such as celiac disease, Crohn’s disease, chronic pancreatitis, or cystic fibrosis
• lactase deficiency, or lactose intolerance
• certain defects that are congenital, or present at birth, such as biliary atresia, when the bile ducts don’t develop normally and prevent the flow of bile from the liver
• diseases of the gallbladder, liver, or pancreas

so here, in lactase deficiency,

Lactose intolerance in infants (congenital lactase deficiency) is caused by mutations in the LCT gene. The LCT gene provides instructions for making the lactase enzyme. Mutations that cause congenital lactase deficiency are believed to interfere with the function of lactase, causing affected infants to have a severely impaired ability to digest lactose in breast milk or formula.

Lactose intolerance in adulthood is caused by gradually decreasing activity (expression) of the LCT gene after infancy, which occurs in most humans. LCT gene expression is controlled by a DNA sequence called a regulatory element, which is located within a nearby gene called MCM6.

Also there is folate malabsorption syndrome, in which -

Mutations in the SLC46A1 gene result in a PCFT protein that has little or no activity. In some cases the mutated protein is not transported to the cell membrane, and so it is unable to perform its function. A lack of functional PCFT impairs the body's ability to absorb folates from food, resulting in the signs and symptoms of hereditary folate malabsorption.

ANSWER 2: The patient is manifested with generalized edema in extremities because the patient is having a deficiency of protein and protein maintains the osmolarity of fluids. Imbalance in protien level leads to fluid retention in body and hence cause edema.

ANSWER3: Here, the patient has history of malabsorption syndrome which leads to protein deficiency. And we know that The proteins help to hold salt and water inside the blood vessels so fluid does not leak out into the tissues. If a blood protein, called albumin, gets too low, fluid is retained and edema occurs, especially in the feet, ankles and lower legs in response to less protein level. To prevent the further loss of protein and fluids from body this physiological response has occured.

ANSWER 4: Additional cell types affected by autoantibodies include islet and parietal cells which causes malabsorption and protein deficiciency, albumin affects in protein deficiency.

Malabsorption may affect people based on age or gender. For instance, women may stop menstruating, and children may not grow properly. Their weight or rate of weight gain may be significantly below that of other children of a similar age and gender.

Mutation in genes like SLC46A1 gene or mutations in the LCT gene.will cause different type of malabsorption. Malabsorption cause protein deficiency, as well as carbohydrates, fat ,minerals and vitamin deficiency. Many symptoms differ depending on the specific nutrient or nutrients that aren’t being absorbed properly

Malabsorption is also depend on environmental and geographical factors such as  tropical sprue, a condition most common in the Caribbean, India, and other parts of Southeast Asia. This disease may be related to environmental factors, such as toxins in food, infection, or parasites.

An even rarer potential cause of malabsorption is Whipple’s disease, which is a result of a bacterial infection.