Genetics and Genomics
This type of inheritance requires only one mutated allele and appears in successive generations.
What is autosomal dominant?
This lab reflects average blood glucose over the past 2-3 months.
What is A1C?
This is the intermediate state between normal glucose production and diabetes.
What is prediabetes?
A patient with chronic kidney disease (CKD) has a GFR of 20 mL/min. Which of the following electrolyte imbalances is MOST likely to be present due to impaired kidney function?
a. Hypokalemia and metabolic alkalosis
b. Hyperkalemia and metabolic acidosis
c. Hyperkalemia and metabolic alkalosis
d. Hypokalemia and metabolic acidosis
b. Hyperkalemia and metabolic acidosis
In Chronic Kidney Disease (CKD), a significantly reduced glomerular filtration rate (GFR), such as 20 mL/min, leads to impaired kidney function and reduced ability to excrete waste products and maintain electrolyte balance. In this situation, the most likely electrolyte imbalances are hyperkalemia and metabolic acidosis.
Hyperkalemia- Kidneys are responsible for excreting potassium, so as their function declines, potassium accumulates in the blood.
Metabolic acidosis- The kidneys also regulate acid-base balance by excreting hydrogen ions and reabsorbing bicarbonate. In CKD, the kidneys' reduced ability to do so leads to a buildup of hydrogen ions in the blood, causing metabolic acidosis.
At what GFR value is dialysis typically indicated?
a. 60-89 mL/min
b. 30-59 mL/min
c. 15-29 mL/min
d. <15 mL/min
d. <15 mL/min
Since dialysis removes waste and maintains fluid/electrolyte balance, it is started when GFR is <15 mL/min or when symptoms of kidney failure like the presence of uremia, become unmanageable through other means.
For autosomal recessive diseases, when two heterozygous carriers have a child, this is the probability the child will be affected.
What is 25%?
This complication is characterized by ketones, metabolic acidosis, and Kussmaul respirations.
What is DKA?
This type of diabetes is characterized by Autoimmune destruction of pancreatic beta cells
What is Type I diabetes?
Which of the following risk factors contributes most significantly to the development of chronic kidney disease (CKD)?
a. Increasing age
b. Diabetes
c. Family history of renal disease
d. Exposure to nephrotoxic agents
b. Diabetes
Diabetes is the leading cause of CKD, accounting for approximately 50% of cases.
Chronic hyperglycemia damages blood vessels in the kidneys, leading to impaired kidney function over time.
Increasing age (A) is a risk factor, but it is not as significant as diabetes in the development of CKD.
Family history (C) and nephrotoxic agents (D) are important risk factors, but they contribute to a smaller proportion of CKD cases compared to diabetes.
Screening for these risk factors, particularly diabetes, is essential to identify patients at risk and intervene early.
Which of the following symptoms would most likely indicate the development of uremia in a patient with advanced CKD?
a. Increased appetite and energy levels
b. Metallic taste, itching, and nausea
c. High blood pressure and weight gain
d. Excessive urination and thirst
b. Uremia develops when kidney function declines significantly, often with a GFR of 15 mL/min or lower, leading to the accumulation of waste products like urea and creatinine. This causes systemic symptoms such as:
Metallic taste: Elevated urea levels alter taste perception, causing a metallic or bitter taste in the mouth.
Fatigue: Waste product buildup impairs metabolism and electrolyte balance, leading to weakness and tiredness.
Nausea and vomiting: Elevated BUN and creatinine irritate the gastrointestinal system, resulting in nausea and vomiting.
This type of inheritance pattern primarily affects males and involves transmission through the X chromosome.
What is X-linked inheritance?
Blood glucose less than this value defines hypoglycemia.
What is 70 mg/dL?
This is the amount of weeks in pregnancy gestational diabetes is usually diagnosed
What is 24 - 28 weeks ?
Which of the following factors most significantly differentiates the diagnostic value of serum creatinine from blood urea nitrogen (BUN) in assessing kidney function?
a. Serum creatinine levels are independent of dietary protein intake, unlike BUN
b. BUN is more sensitive to early kidney dysfunction than creatinine clearnace
c. Serum creatinine levels fluctuate more due to hydration status than BUN
d. BUN directly reflects glomerular filtration rate (GFR), whereas creatinine does not
a. Serum creatinine and blood urea nitrogen (BUN) are both commonly used markers of kidney function, but they differ significantly in their diagnostic value:
Serum Creatinine (SCr)
- Byproduct of muscle metabolism, excreted primarily through glomerular filtration. Unlike BUN, serum creatinine levels are relatively stable and not influenced by dietary protein intake. Serves as more direct reflection of glomerular filtration rate (GFR), making it a better marker for chronic kidney disease (CKD) progression.
Blood Urea Nitrogen (BUN)
- BUN is influenced by multiple factors, including protein intake, liver function, and hydration status. Dehydration, high-protein diets, and GI bleeding can all elevate BUN independently of kidney function. Because of these extrarenal influences, BUN alone is not a reliable indicator of kidney function.
Which of the following is the primary advantage of kidney transplantation for patients with end-stage renal disease (ESRD), and what are some of the major complications associated with the procedure?
a. It is a cost-effective, short-term solution that eliminates the need for medication
b. It reverses many changes associated with CKD, increases self-esteem, and reduces lifestyle restrictions but carries risks such as rejection, infection, and malignancies.
c. It eliminates the need for dialysis permanently, but requires long-term dialysis afterwards
d. It is the least expensive form of treatment with minimal risks for complications like cardiovascular disease and malignancies
b. It reverses many changes associated with CKD, increases self-esteem, and reduces lifestyle restrictions but carries risks such as rejection, infection, and malignancies
Kidney transplantation is considered the best option for patients with end-stage renal disease because it can reverse many complications of CKD, improves quality of life by increasing independence, and reduces lifestyle restrictions like dialysis. However, it carries significant risks, including organ rejection, infection, and increased risk of cardiovascular disease and malignancies, and complications related to long-term corticosteroid use.
Before genetic testing, the nurse must ensure this principle is upheld.
What is informed consent (or patient autonomy)?
This is the preferred route for insulin administration.
What is subcutaneous?
A blood glucose level of over 600 mg/dL is a characteristic of this disease primarily found in DM2 patients
What is Hyperosmolar Hyperglycemic Syndrome (HHS)
A patient with Stage 4 CKD is diagnosed with secondary hyperparathyroidism. What is the primary mechanism leading to this condition?
a. Decreased renal clearance, leading to hypercalcemia and excessive PTH secretion
b. Impaired activation of vitamin D, resulting in decreased intestinal calcium absorption and hypocalcemia
c. Increased sodium retention, causing calcium to shift into the intracellular space
d. Excessive erythropoietin production, leading to increased calcium demand for red blood cell formation
b. Impaired activation of vitamin D, resulting in decreased intestinal calcium absorption and hypocalcemia
In CKD, the kidneys lose their ability to activate vitamin D, which is essential for calcium absorption in the intestines. As a result blood calcium levels drop (hypocalcemia). In response, the parathyroid glands secrete more parathyroid hormone (PTH) to restore calcium levels. PTH tries to compensate by:
1. Mobilizing calcium from bones to increase bone calcium - bone loss (osteitis fibrosa) and vascular calcifications = increasing their risk of cardiovascular events
2. Enhancing renal calcium reabsorption, though this is ineffective in CKD
3. Stimulating vitamin D activation, which is impaired in CKD
Since the kidneys cannot properly respond, PTH remains elevated, leading to secondary parathyroidism, which contributes to bone loss and vascular calcifications.
A patient with chronic kidney disease (CKD) receiving hemodialysis (HD) asks about dietary restrictions. Which of the following dietary guidelines is most appropriate for this patient?
a. The patient should consume a high-protein diet and avoid restrictions on sodium, potassium, and phosphate.
b. The patient should limit protein intake to 0.6-1 g/kg/day, restrict sodium to 2-4 grams/day, potassium to 2-3 grams/day, and phosphate to 1 gram/day.
c. The patient should increase protein intake to 1.5 g/kg/day, consume 4-6 grams of sodium, 4-5 grams of potassium, and no restriction on phosphate.
d. The patient should avoid protein completely and restrict sodium to 6 grams/day and potassium to 4 grams/day.
b. The patient should limit protein intake to 0.6-1 g/kg/day, restrict sodium to 2-4 grams/day, potassium to 2-3 grams/day, and phosphate to 1 gram/day.
For patients on hemodialysis (HD), the recommended protein intake is 0.6-1 g/kg/day, and they should be cautious with high-protein diets and supplements, as excess protein can worsen kidney function. Sodium, potassium, and phosphate restrictions are crucial to prevent complications such as fluid overload, hyperkalemia, and further kidney damage. Proper dietary management helps control fluid balance and electrolyte levels while supporting overall health.
This field studies how genetic variations influence drug metabolism and dosing.
What is pharmacogenomics?
During illness, blood glucose should be checked every ___ hours.
What is 4 hours?
This is the rebound hyperglycemia after nighttime hypoglycemia
What is the Somogyi effect?
A patient is diagnosed with chronic kidney disease (CKD) after routine lab work shows a GFR of 50 mL/min/1.73m² for the past five months. Which of the following is the most likely cause of death in patients with CKD?
Bonus: What is the leading cause of death in patients with AKI?
a. Sepsis
b. Hyperkalemia
c. Cardiovascular disease
d. Acute tubular necrosis
c. Cardiovascular disease
Cardiovascular disease (CVD) is the leading cause of death in patients with CKD due to factors like hypertension, fluid overload, dyslipidemia, and vascular calcifications.
Sepsis (A) is a leading cause of death in acute kidney injury (AKI) but is less common in CKD.
Hyperkalemia (B) is a serious complication of CKD, but it is not the primary cause of death.
Acute tubular necrosis (D) is a major cause of AKI, not CKD, and is potentially reversible.
Bonus: Infection is the leading cause of death in patients with AKI, especially as impaired kidney function predisposes patients to sepsis and other infections due to weakened immune response and increased vulnerability to bacterial growth.
Which of the following is a key nursing intervention for patients undergoing peritoneal dialysis?
a. Using cold dialysate to improve comfort
b. Performing strict aseptic technique when handling the catheter
c. Encouraging high-protein intake to prevent infections
d. Avoiding monitoring post-dialysis weight since fluid balance is stable
b. Performing strict aseptic technique when handling the catheter
Aseptic technique is critical in preventing exit site infections and peritonitis, which are common complications of peritoneal dialysis
A) Dialysate should be at room temperature, not cold, to prevent discomfort and cramping
C) While protein loss is a concern, high-protein intake alone does not prevent infections. Infection prevention relies on aseptic technique
D) Monitoring post-dialysis weight is essential to assess fluid balance and effectiveness of dialysis