Week 1- Lecture- Renal And Genetic Considerations

Question 1

AKI can include Oliguria and progressive ELEVATions in what 3 major things?

Answer 1

BUN
Creatinine
Potassium

Question 2

Define Azotemia vs Uremia

Answer 2

Azotemia: impaired excretion leads to elevated BUN and creatinine
Uremia: renal function decreases causing symptoms in body symptoms (fatigue, anorexia, nausea, pruritis)

Question 3

Pre renal AKI associated decreased urine output, and…

Answer 3

Increased salt and water retention
Urea, Creatine, K+ elevations
HIGH BUN/Cr ratio ≥20:1

Question 4

Vasoactive Medications that can contribute to hypoperfusion of glomeruli and AKI

Answer 4

ACE inhibitors and ARBS
Epinephrine Dopamine
NSAIDs and Constrast agents

Question 5

Define Pre Renal Vs IntraRenal Injury

Answer 5

PreRenal: Renal tubular & glomerular function are preserved, but glomerular filtration is reduced because of decreased perfusion
IntraRenal: Direct damage to the renal tissue (parenchyma) resulting in impaired nephron function

Question 6

Oliguria is defined as how much urine?

Answer 6

Less than 30 ml/hour, or less than 400 ml/day

Question 7

Glomerulophritis can worsen into nephrotic syndrome, which is defined as how much protein in the urine?

Answer 7

Excretion of 3.5 grams or more of protein in the urine per day (kidneys unable to reabsorb protein)

Question 8

Acute tubular necrosis can be reversible if :

Answer 8

Ischemia is not prolonged
Basement membrane is not destroyed
Tubular epithelium regenerates

Question 9

POST-RENAL CAUSES OF AKI include Prostatic hyperplasia
Prostate cancer
Renal calculi
Trauma
Extrarenal tumors
Explain how any of these would affect kidney function?

Answer 9

obstruction of urinary flow
When urine flow is obstructed, urine backs up into the renal pelvis, and this impairs kidney function

Question 10

Four stages of AKI

Answer 10

Initiation phase
Extension phase
Maintenance phase
Recovery phase

Question 11

In addition to Oliguria and FLuid excess, what other systemic features are involved in AKI?

Answer 11

Metabolic acidosis (kidney’s cant synthesize ammonia AND sodium bicarb levels drop as it is used to buffer H+)
Hyperkalemia (can’t excrete potassium)
HyPOCalcemia and HypERphosphatemia (bc of low caclium d/t no vitamin D)
Sodium imbalance (tubules can’t hold sodium, so high in urine and low/normal sodium in blood

Question 12

Why does the recovery phase include a large increase in urine output?

Answer 12

due to osmotic diuresis from the high urea concentration in the glomerular filtrate & inability of tubules to concentrate the urine
Kidneys can excrete waste but cannot concentrate urine.

Question 13

What is the MOA of Loop Diuretics (ie. Furosemide, Bumetanide) at the loop of henle?

Answer 13

Block the reabsorption of Sodium and Chloride, leading to their excretion (and water with it)

Question 14

SE of Thiazide diuretics

Answer 14

Low sodium low potassium

Question 15

What is the MOA of thiazide diuretics (Hydrochlorothiazide
Chlorothiazide)?

Answer 15

increasing the excretion of sodium, potassium and water at the site of the distal tubule.

Question 16

ACE’s and ARBs Reduce blood pressure
Slow reduction of eGFR
Decrease proteinuria, but important consideration for CKD?

Answer 16

Don’t use ACE’s and ARB’s together. And not beneficial in advanced disease.

Question 17

Define ANEUPLEUDY

Answer 17

general term for conditions involving missing OR additional chromosomes. Usually caused by non-disjunction (failure of chromosomes to separate properly during meiosis/mitosis)

Question 18

In Trisomy 21, what health considerations can be present Besides facial features/developmental delay

Answer 18

Congenital heart defect
Hypotonia
Duodenal atresia
Increased risk of leukemia
Early-onset Alzheimer’s disease

Question 19

Features of Turner’s Syndrome (45X, one of the two X chromosome’s is missing)

Answer 19

Primary infertility/ gonadal dysgenesis
Characteristic physical features
Normal intelligence
Short stature
Congenital anomalies (cardiac, renal)

Question 20

Features of Klinefelter’s syndrome (47 XXY)

Answer 20

Tall stature
Gynecomastia
Hypogonadism
Infertility
Learning difficulties

Question 21

Define autosomal dominant (examples are: Achondroplasia, Marfan’s syndrome, Hereditary breast/ovarian cancer, hyoertrophic cardiomyopathy, Huntington’s disease)

Answer 21

Autosomal, so can affect males and females.
Even having one defective gene and one normal gene can still result in disease.
50% of offpsring will be affected.

Question 22

Define Autosomal Recessive (examples are: Taye Sachs, SCD, CF, PKU)

Answer 22

One copy of defective gene will not result in illness, but indicate carrier status. Two copies of defective gene must be present for disease to be present.

Question 23

Define X linked inheritance (Ex Dechenne’s Muscular dystrophy, Fabry disease, Hemophilia, X linked Adrenoleukodytrophy, Fragile X syndrome)

Answer 23

Defective gene found on X chromosome, carried by mother, but affected on male offspring.

Question 24

Define Variable Expressivity vs Penetrance

Answer 24

Variable Expressivity means those with genetic disease may have different signs, symptoms, disease course. Penetrance refers to percentage of people with genetic trait who actually demonstrate the disease.

Question 25

Three kinds of Chromosome testing that test for aneupleudy, chromosomal deletions/duplications

Answer 25

Routine Karyotype, FLuorescence in situ (FISH), chromosomal microarray.

Question 26

What test determines the sequence of nucleotides in deoxyribonucleic acid (DNA) molecules

Answer 26

Molecular genetic testing: Gene sequencing

Question 27

Common Referral Indications for adult genetic testing:

Answer 27

Cardiomyopathy +/- arrhythmia
Aortic dilatation/dissection
Retinitis pigmentosa
Polycystic kidney disease
Connective tissue disorders
Ataxia
Unexplained or unusual neurological deterioration/dementia

Question 28

Expected 24/hr Volumes for Normal
Urine output, Oliguria and Anuria

Answer 28

Normal: 800-2000mL/day
Oliguria: 100-800 (or 30mL/hour or less)
Anuria: <100 mL/day

Question 29

Normal Urine Specific Gravity and
Urine Osmolality

Answer 29

Specific Gravity: 1.010-1.030
Urine Osmolality: 500-800 m0sm

Question 30

Normal Urine Sodium Concentration and
BUN/Creatinine ratio

Answer 30

Urine Sodium Concentration: 20mEq/L
BUN/Creatinine ratio: 10:1 - 20:1

Question 31

What is the GFR in Stage 1 and
Stage 2 Kidney damage:

Answer 31

1: normal or increased GFR (≥ 90.ml/min)
2: mild decreased GFR (60-89 ml/min)

Question 32

What is the GFR in Stage 3 and 4 Kidney Damage

Answer 32

3: GFR (30-59 ml/min)
4: 15-29 ml/min)

Question 33

What is the GFR in ESRD

Answer 33

less than 15 ml/min