Week 1- Lecture- Renal And Genetic Considerations Flashcards
AKI can include Oliguria and progressive ELEVATions in what 3 major things?
BUN
Creatinine
Potassium
Define Azotemia vs Uremia
Azotemia: impaired excretion leads to elevated BUN and creatinine
Uremia: renal function decreases causing symptoms in body symptoms (fatigue, anorexia, nausea, pruritis)
Pre renal AKI associated decreased urine output, and…
Increased salt and water retention
Urea, Creatine, K+ elevations
HIGH BUN/Cr ratio ≥20:1
Vasoactive Medications that can contribute to hypoperfusion of glomeruli and AKI
ACE inhibitors and ARBS
Epinephrine Dopamine
NSAIDs and Constrast agents
Define Pre Renal Vs IntraRenal Injury
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
Oliguria is defined as how much urine?
Less than 30 ml/hour, or less than 400 ml/day
Glomerulophritis can worsen into nephrotic syndrome, which is defined as how much protein in the urine?
Excretion of 3.5 grams or more of protein in the urine per day (kidneys unable to reabsorb protein)
Acute tubular necrosis can be reversible if :
Ischemia is not prolonged
Basement membrane is not destroyed
Tubular epithelium regenerates
POST-RENAL CAUSES OF AKI include Prostatic hyperplasia
Prostate cancer
Renal calculi
Trauma
Extrarenal tumors
Explain how any of these would affect kidney function?
obstruction of urinary flow
When urine flow is obstructed, urine backs up into the renal pelvis, and this impairs kidney function
Four stages of AKI
Initiation phase
Extension phase
Maintenance phase
Recovery phase
In addition to Oliguria and FLuid excess, what other systemic features are involved in AKI?
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
Why does the recovery phase include a large increase in urine output?
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.
What is the MOA of Loop Diuretics (ie. Furosemide, Bumetanide) at the loop of henle?
Block the reabsorption of Sodium and Chloride, leading to their excretion (and water with it)
SE of Thiazide diuretics
Low sodium low potassium
What is the MOA of thiazide diuretics (Hydrochlorothiazide
Chlorothiazide)?
increasing the excretion of sodium, potassium and water at the site of the distal tubule.
ACE’s and ARBs Reduce blood pressure
Slow reduction of eGFR
Decrease proteinuria, but important consideration for CKD?
Don’t use ACE’s and ARB’s together. And not beneficial in advanced disease.
Define ANEUPLEUDY
general term for conditions involving missing OR additional chromosomes. Usually caused by non-disjunction (failure of chromosomes to separate properly during meiosis/mitosis)
In Trisomy 21, what health considerations can be present Besides facial features/developmental delay
Congenital heart defect
Hypotonia
Duodenal atresia
Increased risk of leukemia
Early-onset Alzheimer’s disease
Features of Turner’s Syndrome (45X, one of the two X chromosome’s is missing)
Primary infertility/ gonadal dysgenesis
Characteristic physical features
Normal intelligence
Short stature
Congenital anomalies (cardiac, renal)
Features of Klinefelter’s syndrome (47 XXY)
Tall stature
Gynecomastia
Hypogonadism
Infertility
Learning difficulties
Define autosomal dominant (examples are: Achondroplasia, Marfan’s syndrome, Hereditary breast/ovarian cancer, hyoertrophic cardiomyopathy, Huntington’s disease)
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.
Define Autosomal Recessive (examples are: Taye Sachs, SCD, CF, PKU)
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.
Define X linked inheritance (Ex Dechenne’s Muscular dystrophy, Fabry disease, Hemophilia, X linked Adrenoleukodytrophy, Fragile X syndrome)
Defective gene found on X chromosome, carried by mother, but affected on male offspring.
Define Variable Expressivity vs Penetrance
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.
Three kinds of Chromosome testing that test for aneupleudy, chromosomal deletions/duplications
Routine Karyotype, FLuorescence in situ (FISH), chromosomal microarray.
What test determines the sequence of nucleotides in deoxyribonucleic acid (DNA) molecules
Molecular genetic testing: Gene sequencing
Common Referral Indications for adult genetic testing:
Cardiomyopathy +/- arrhythmia
Aortic dilatation/dissection
Retinitis pigmentosa
Polycystic kidney disease
Connective tissue disorders
Ataxia
Unexplained or unusual neurological deterioration/dementia
Expected 24/hr Volumes for Normal
Urine output, Oliguria and Anuria
Normal: 800-2000mL/day
Oliguria: 100-800 (or 30mL/hour or less)
Anuria: <100 mL/day
Normal Urine Specific Gravity and
Urine Osmolality
Specific Gravity: 1.010-1.030
Urine Osmolality: 500-800 m0sm
Normal Urine Sodium Concentration and
BUN/Creatinine ratio
Urine Sodium Concentration: 20mEq/L
BUN/Creatinine ratio: 10:1 - 20:1
What is the GFR in Stage 1 and
Stage 2 Kidney damage:
1: normal or increased GFR (≥ 90.ml/min)
2: mild decreased GFR (60-89 ml/min)
What is the GFR in Stage 3 and 4 Kidney Damage
3: GFR (30-59 ml/min)
4: 15-29 ml/min)
What is the GFR in ESRD
less than 15 ml/min
