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USMLE Step 1 practice exam flashcards > First Aid > Flashcards

First Aid Flashcards

1
Q

Fomepizole

A

Inhibits alcohol dehydrogenase - antidote for methanol or ethylene glycol intoxication

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2
Q

Disulfiram

A

Inhibits acetaldehyde dehydrogenase - DIScourages drinking

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3
Q

Occur in mitochondria + cytoplasm

A

Heme synthesis, urea cycle, gluconeogenesis (HUG’s take 2)

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4
Q

Rate determiner - glycolysis

A

phosphofructokinase-1

Activated by - AMP, fructose-2,6,biphosphate

Inhibited by - ATP, citrate

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5
Q

Rate determiner - gluconeogenesis

A

Fructose-1,6-biphosphate

Activated by - citrate

Inhibited by - AMP, fructose-2,6-biphosphate

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6
Q

Rate determiner - TCA cycle

A

Isocitrate dehydrogenase

Activated by - ADP

Inhibited by - ATP, NADH

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7
Q

Rate determiner - glycogenolysis

A

Glycogen phosphorylase

Activated by - epinephrine, glucagon, AMP

Inhibited by - glucose-6-phosphate, insulin, ATP

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8
Q

Rate determiner - HMP shunt

A

G6PD

Activated by - NADP+

Inhibited by - NADPH

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9
Q

Rate determiner - de novo pyrimidine synthesis

A

Carbamoyl phosphate synthetase II

Activated by - ATP, PRPP

Inhibited by - UTP

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10
Q

Rate determiner - de novo purine synthesis

A

PRPP - glutamine phosoribosylpyrophosphate amidotransferase

Inhibited by - AMP, IMP, GMP

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11
Q

Rate determiner - urea cycle

A

Carbamoyl phosphate synthetase I

Activated by - n-acetylglutamate

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12
Q

Rate determiner - Fatty acid synthesis

A

Acetyl-CoA carboxylase

Activated by - insulin, citrate

Inhibited by - glucagon, palmitoyl-CoA

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13
Q

Rate determiner - Fatty acid oxidation

A

Carnitine acyltransferase

Inhibited by malonyl CoA

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14
Q

Rate determiner - Ketogenesis

A

HMG CoA synthase

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15
Q

Rate determiner - Cholesterol synthesis

A

HMG coA reductase

Activated by - insulin, thyroxine

Inhibited by - glucagon, cholesterol

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16
Q

Rate determiner - glycogenesis

A

Glycogen synthase

Activated by - glucose-6-phosphate, insulin, cortisol

Inhibited by - epinephrine, glucagon

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17
Q

Galactokinase

A

Mild galactosemia

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18
Q

galactose-1-phosphate uridyltransferase

A

Severe galactosemia

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19
Q

Hexokinase/glucokinase

A

Glucose –> Glucose-6-phosphate

Hexokinase - most tissues except liver - low Km (high affinity) - low Vmax low capacity - Feedback inhibited

Glucokinase - liver and beta-cells of pancreas - high Km (low affinity) - high Vmax high capacity no feedback inhibition by glucose-6-phosphate

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20
Q

Glucose-6-phosphatase

A

Von Gierke disease

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21
Q

Glucose-6-phosphate dehydrogenase

A

Necessary for glucose-6-phophate–> 6-phosphgluconolactone in HMP shunt

Transketolase: ribulose-5-phosphate –> fructose-6-phosphate (leaves HMP shunt) - thiamine cofactor

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22
Q

Phosphofructokinase-1

A

Conversion of F-6-P –> F-1,6-biphosphate

Rate limiting step in glycolysis

Activated by - AMP, fructose 2,6,-biphosphate

Inhibited by - ATP, citrate

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23
Q

fructose 1,6 biphosphatase

A

Conversion of F-6-P

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24
Q

Fructokinase

A

Essential fructosuria - benign

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25
Q

Aldolase B

A

Fructose intolerance - NOT benign

hypoglycemia, jaundice, vomitting, cirrhosis.

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26
Q

Pyruvate kinase

A

PEP –> pyruvate - irreversible

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27
Q

Pyruvate dehydrogenase

A

pyruvate –> acetyl CoA - irreversible - thiamine cofactor

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28
Q

HMG-CoA reductase

A

HMG-CoA –> mevalonate –> cholesterol

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29
Q

Pyruvate corboxylase

A

Pyruvate –> oxaloacetate - Biotin cofactor

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30
Q

PEP carboxykinase

A

Oxaloacetate –> PEP

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31
Q

Isocitrate dehydrogenase

A

Isocitrate –> alpha-ketoglutarate

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32
Q

alpha-ketoglutarate dehydrogenase

A

alpha-ketoglutarate –> succinyl CoA - requires Thiamine

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33
Q

Ornithine transcarbomylase

A

Ornithine –> citrulline - Urea cycle

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34
Q

Propionyl-CoA Carboxylase

A

Propionyl CoA –> mehtylmalonyl CoA - biotin cofactor

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35
Q

Arsenic

A

Glycolysis nets 0 ATP

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36
Q

NAD+ vs. NADPH

A

NAD+ - catabolic

NADPH - anabolic processes - product of HMP shunt

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37
Q

Pyruvate dehydrogenase complex deficiency

A

Causes buildup of pyruvate that gets shunted to lactate (via LDH) and alanine (via ALT)

Findings: Neuro defects, lactic acidosis, increased serum alanine

treatment: increase intake of ketogenic nutrients

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38
Q

Electron transport inhibitors

A

Rotenone - complex one
An-3-mycin - antimycin - complex 3
Cyanide, CO, and azide - complex 4`

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39
Q

Oligomycin

A

ATP synthase inhibitor - no ATP produced

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40
Q

Fructokinase deficiency

A

Essential fructosuria - benign

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41
Q

Aldolase B deficiency

A

Fructose intolerance - BAD

Fructose-1-phosphate accumulates and uses available phosphate

Hypoglycemia, guanidine, cirrhosis, vomitting

Treat by decreasing fructose and sucrose in diet

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42
Q

Galacokinase deficiency

A

Benign - galactilol accumulates

galactosemia, galactosemia, and infantile cataracts.

May appear as inability to track objects and develop social smile.

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43
Q

Galactose-1-phosphate uridyltransferase deficiency

A

BAD

Galctilol accumulates

FTT, jaundice, hepatomegaly, infantile cataracts, intellectual disability. E. Coli sepsis in neonates

Treat by decreasing lactose and galactose in diet.

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44
Q

Aldose reductase

A

transforms glucose –> sorbitol to trap it in cell.

Sorbitol dehydrogenase converts Sorbitol –> fructose
Lack of this enzyme –> intracellular sorbitol accumulation causes osmotic damage - cataracts, retinopathy, and peripheral neuropathy seen in hyperglycemia.

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45
Q

Essential amino acids

A

PVT TIM HALL

Phenylalanine, valine, tyrosine, threonine, isoleucine, met, His, leucine, lysine

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46
Q

Glucogenic AA’s

A

Met, his, val - I MET HIS VALentine, she is so sweet

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47
Q

Gluco/ketogenic

A

Isoleucine, she, threonine, tyrosine

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48
Q

Ketogenic

A

Leucine, lysine

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49
Q

Basic AA’s

A

Arg, his, lys - HIS LYS Ar basic
(+) charge at physiologic pH

Arrginine is most basic
Arg+his required for growth

Arg+lysine are increased in histones with bind negatively charged DNA.

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50
Q

Acidic AA’s

A

glutamic acid, and aspartic acid

(-) charge at physiologic pH

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51
Q

Hyperammonemia

A

Excess. NH3 depletes GABA in the CNS and alpha-ketoglutarate –> Inhibition of the TCA cycle

Treatment - limit protein

To decrease ammonia levels:

  • lactulose 0 acidify GI tracts and trap NH4+
  • Abx to decrease colonic ammoniagenic bacteria
  • Benzoate, phenylacetate, or pheylbutarate - react w/ glycine or glutamine –> form really excreted products.
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52
Q

Ornithine transcrabamylase deficiency

A

x-linked recessive

Interferes w/ bodies ability to eliminate ammonia.

Excess carbamoyl phosphate is converted to orotic acid (increased levels in blood and urine)

Decreased BUN and symptoms of hypoerammonemia.

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53
Q

Phenylalanine derivative

A

Tyrosine –> thyroxine OR DOPA
DOPA –> Melanin or dopamin
Dopamine –> NE (Vit. C co-factor)
NE –> Epi (SAM)

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54
Q

Tryptophan

A
  • -> Niacin –> NAD+/NADP+

- -> Seratonin –> melatonin

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55
Q

Glycine

A

–> porphyrin –> heme

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56
Q

Glutamate

A
  • -> GABA

- -> Glutathione

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57
Q

Arginine

A
  • -> Creatinine
  • -> Urea
  • -> NO
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58
Q

Phenylketonuria

A

decreased BH4 or phenylalanine hydroxylase

Tyrosine is essential

Decrease phenylalanine and increase tyrosine in diet, supplement BH4 - avoid aspartame

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59
Q

MSUD

A

Blocked degradation of branched chain Das (leucine, isoleucine, valine) d/t decreased branched chain alpha-ketoacid dehydrogenase.

Increased alpha-ketoacids in blood

CNS defects, intellectual disability, death. Presents w/ vomitting, poor feeding

Treatment: restrict branched chain AA’s, supplement w/ thiamine

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60
Q

Alkoptanuria

A

Homogentisate oxidase deficiency –> pigment forming homogentisic acid accumulates in tissue

AR - Usually benign

Findings: Blue/black CT (ear cartilage and sclerae), urine black on air exposure. May have debilitating arthralgias

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61
Q

Homocysteinuria

A

Ostoperosis, marfanoid habitue, ocular changes (lens subluxation down and in), cardiovascular (thrombosis/athersclerosis), kyphosis, intellectual disability.

Causes:

  • Crystathione synthase deficiency: Decrease met in diet, increase cysteine, B6, B12, and folate.
  • Decreased affinity of crystathione synthase for pyridoxal phosphate: treat with B6 and cysteine in diet
  • Methionine synthase deficiency: increase Met in diet
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62
Q

Cystinuria

A

Defect of renal PCT and intestinal AA transporter that prevents reabsorption or Cysine, Ornithine, Lysine, and Arginine (COLA)

Recurrent precipitation of hexagonal cystine stones

Tx: hydration, urine alkalinization, chelating agents.

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63
Q

Periodic acid schiff stain

A

identifies glycogen

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64
Q

Von Gierke

A

Type I glycogen storage disease - glucose-6- phosphatase deficiency

Severe fasting hypoglycemia, increased glycogen in liver and kidneys, increased blood lactate, increased triglycerides, increased rica acid, hepatomegaly, renomegaly.

Tx: Frequent oral glucose

Impaired glycogenolysis and gluconeogenesis

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65
Q

Pompe

A

Type II glycogen storage disease - lysosomal acid alpha-1,4-glucosidase with alpha-1,6-glucosidase activity deficiency

POMPE trashes the pump (heart, liver, muscle)

Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, hypotonia. Early death.

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66
Q

Cori

A

Type III glycogen storage disease - deb ranching enzyme alpha-1,6-glucosidase deficiency

Mild Von Gierke - gluconeuogenesis in tact

Normal blood lactate

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67
Q

Mcardle

A

Type V glycogen storage disease - Skeletal muscle glycogen phosphorylase

Muscle can’t break down glycogen - painful muscle cramps w/ exercise and arrhythmia from electrolyte abnormalities.

Second wind from increased muscular blood flow.

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68
Q

Tay Sachs

A

AR
Deficiency hexosaminidase A –> Buildup of GM2 ganglioside

Progressive neurodegeneration, cherry-red spot on macula

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69
Q

Fabry

A

XR
Deficiency alpha-galactosidase A –>ceramics trihexoside

Early: Peripheral neuropathy, angiokeratomas, hypohidrosis

Late: progressive renal failure, cardiovascular DZ

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70
Q

Metachromatic leukodystrophy

A

AR
Arylsulfatase A –> Buildup of cerebroside sulfate

Central and peripheral demyelination w/ taxi, demention

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71
Q

Krabbe

A

AR
Deficiency galactocerebrosidase –> Buildup of galactocerebroside psychosine

Peripheral neuropathy, oligodendrocyte destruction, developmental delay, optic atrophy, globoid cells

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72
Q

Gaucher

A

AR - most common lysosomal storage disease

Deficiency glucocerebrosidase –> Buildup of glucocerebroside

hepatosplenomegaly, pancytopenia, osteoperosis, avascular necrosis of femur, bone crises, gaucher cells (lipid laden macrophage resembles tissue paper, looks like HUGE lymphocyte)

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73
Q

Niemann-pick

A

AR

Deficiency sphingomyelinase –> Buildup of sphingomyelin

hepatosplenomegaly, Progressive neurodegeneration, cherry-red spot on macula, foam cells (lipid laden macrophages)

NO MAN PICKS his nose with his SPHINGER

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74
Q

Hurler - Mucopolysaccharidoses

A

AR

Deficiency alpha-l-iduronidase –> Buildup of heparin sulfate, derma tan sulfate

developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

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75
Q

Hunter - Mucopolysaccharidoses

A

XR

Deficiency iduronate-2-sulfatase –> Buildup of heparin sulfate, derma tan sulfate

Mild hurler (developmental delay, gargoylism, airway obstruction, hepatosplenomegaly) + aggressive behavior

Hunters see clearly, aggressively aim for the X

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76
Q

Fatty acid metabolism

A

SYtrate = Synthesis - citrate shuttle –> fatty acid synthesis

CARnitine = CARnage - carnitine shuttle –> beta-oxidation

Long chain fatty acids require carnitine shuttle

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77
Q

Carnitine deficiency

A

Can’t transport LCFA’s into mitochondria –> toxic accumulation

Weakness, hypotonia, hypoketotic hypoglycemia (can’t beta-oxidize LCFAs)

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78
Q

Medium chain acyl-CoA dehydrogenase deficinecy

A

Decreased ability to break down FA’s in Acetyl CoA –> fatty acyl carnitines accumulate in blood with hypoketotic hypoglycemia.

Vomitting, lethargy, seizures, coma, liver dysfunction, hyperammonemia.

Sudden death in infants/children - avoid fasting.

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79
Q

Precursor to thyroid in diet

A

Phenylalanine –> tyrosine –> thyroid

Also precursor to DOPA, melanin, epi, and noreepie

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80
Q

Metachromatic leukodystrophy

A

Arylsulfatase A deficiency

Metachromasia: Sulfatides and cerebroside sulfate accumulate –> changes color of toluidine blue to reddish pink

Muscle weakness and difficulty walking - demyelinates central and peripheral nerves

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81
Q

Kcal/ carb, alcohol, and fatty acid

A

Carb - 4 kcal
Alcohol - 7 kcal
Fatty Acid - 9 kcal

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82
Q

Apolipoprotein E

A

Mediates remnant uptake - everything except LDL

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83
Q

Apolipoprotein A-I

A

Activates LCAT

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84
Q

Apolipoprotein C-II

A

Lipoprotein lipase cofactor that catalyzes cleavage

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85
Q

Apolipoprotein B-48

A

Mediates chylomicron secretion into lymphatics

Only particle originating in intestines

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86
Q

Apolipoprotein B-100

A

Binds LDL receptor

Only particle originating from liver

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87
Q

hormone sensitive lipase

A

Degrades TGs stored in adipocytes

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88
Q

Hepatic lipase

A

Degrades TGs remaining in IDL

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89
Q

LCAT

A

Catalyzes esterification of 2/3 of plasma cholesterol

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90
Q

Lipoprotein lipase

A

Degrades TGs circulating chylomicrons and VLDLs - on vascular endothelial surface

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91
Q

Pancreatic lipase

A

Degrade dietary TGs in small intestine

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92
Q

abetalipoproteinemia

A

AR

Chylomicrons, VLDL and LDL are absent

Deficient ApoB-48 and ApoB-100

Early: Severe fat malabsorption, steatorrhea, FTT.
Late: retinitis pigments, spinocerebellar degeneration (vit U deficiency), progressive ataxia, acanthocytosis

TX: restrict LCFAs and large doses of Vt E

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93
Q

hyperchylomicronemia

A

AR

Lipoprotein lipase or apolipoprotein C-II deficiency

Increased chylomicrons, TGs, and cholesterol

Pancreatitis, hepatosplenomegaly, and eruptive/pruritic xanthomas (norisk for atherosclerosis). Creamy layer in supernatant.

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94
Q

Familial hypercholesterolemia

A

AD

Absent/defective LDL receptors or ApoB-100

increased: IIa: LDL, cholesterol
IIb: LDL, cholesterol, VLDL

Heterozygotes (1:500) have cholesterol ≈ 300mg/dL; homozygotes (very rare) have cholesterol ≈ 700+ mg/dL.
Accelerated atherosclerosis (may have MI before age 20), tendon (Achilles) xanthomas, and corneal arcus.
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95
Q

Dysbetalipoproteinemia

A

AR - defective ApoE

Increased chylomicrons and VLDL

Premature atherosclerosis, tuberoeruptive xanthomas, palmar xanthomas

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96
Q

Hypertriglyceridemia

A

AD

Hepatic overproduction of VLDL

Increased VLDL and TG’s in blood

Hypertriglyceridemia (> 1000 mg/dL) can cause acute pancreatitis. Related to insulin resistance.

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97
Q

Alpha amantin

A

found in death cap mushrooms - inhibits RNA polymerase II - causes liver failure

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98
Q

BRCA 1 and BCRA 2 chromosomes

A

BRCA 1 - 17

BCRA 2 - 13

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99
Q

5 co-factors for alpha-ketoglutarate dehydrogenase complex and pyruvate dehydrogenase complex

A

B1, B2, B3, and B5, and lipoic acid

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100
Q

HLA A3

A

Hemochromatosis

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101
Q

HLA B8

A

Addison Dz, Myasthenia graves, graves disease

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102
Q

B27

A

Psoriatic arthritis, ankylosing spondylitis, IBD-associated arthritis, reactive arthritis

PAIR

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103
Q

DQ2/DQ8

A

Celiac - I 8 2 much gluten at DQ

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104
Q

DR2

A

Multiple sclerosis, hay fever, SLE, goodpasture

Multiple hay pastures have dit

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105
Q

DR3

A

DM I, SLE, graves, hashimoto, addison

2,3-SLE

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106
Q

DR4

A

Rhematoid arthritis, DM I, addison

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107
Q

DR5

A

Hashimoto

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108
Q

NK cells

A

kill viral and tumor infected cells w/ perforin/granzyme

Activity enhanced by !L-2, IL-12, IFN-alpha, IFN-beta.

Kills when MHC 1 is absent

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109
Q

T cell differentiation

A

Cortex - (+) selection - can bind self-MHC
Medulla - (-) selection - cells with high affinity binding undergo apoptosis.

Tissue-restricted self-antigens are expressed in the thymus due to the action of autoimmune regulator (AIRE); deficiency leads to autoimmune polyendocrine syndrome-1

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110
Q

Th1

A

Secretes: IFN-y
Function: activate macrophages and cytotoxic T cells to kill phagocyosed microbes
Induced by: IFN-y, IL-12
Inhibited by: IL-4 and IL-10 from Th2
Immune deficiency: mendelian susceptibility to mycobacterial disease

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111
Q

Th2

A

Secretes: IL-4, IL-5, IL-6, IL-10, IL-13
Function: activate eosinophils and promote IgE production
Induced by: IL-2. IL-4
Inhibited by: IFN-y (from TH1)

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112
Q

Th17

A 
Secretes: IL-17, IL-21, IL-22
Function: immunity against extracellular microbes through induction of neutrophillic inflammation
Induced by: TGF-B, IL-1, IL-6
Inhibited by: IL-4, IFN-y
Immune deficiency: Hyper IgE syndrome
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113
Q

Treg

A 
Secretes: TGF-B, IL-10, IL-35
Function: prevent autoimmunity by maintaining tolerance to self antigens
Induced by: TGF-B, IL-2
Inhibited by: IL-6
Immune deficiency: IPEX
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114
Q

IPEX

A

Immune dyregulation, polyendocrinopathy, enteropathy, x-linked syndrome

Genetic deficiency of FOXP3 –> autoimmunity

Characterized by enteropathy, endocrinopathy, nail dystrophy, dermatitis, and/or other autoimmune dermatologic conditions. Associated with diabetes in male infants.

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115
Q

Hepcidin

A

Decreases iron absorption (degrades ferroportin) and decreases iron release from macrophages – > anemia of chronic disease

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116
Q

Complement pathways

A

Classic - IgG or IgM
Alternative - microbe surface molecule
Lectin - mannose or other sugar on cell surface

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117
Q

C3a, C4a, C5a

A

anaphylaxis

C5a - chemotaxis

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118
Q

C5b-9

A

MAC –> cytolysis

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119
Q

Opsonins

A

C3b and IgG

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120
Q

Inhibitors of complement activation

A

delay accelerating factor (DAF), and C1 esterase inhibitor prevent complement activation against self

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121
Q

Paroxysmal nocturnal hemoglobinuria

A

A defect in the PIGA gene preventing the formation of anchors for complement inhibitors, such as decay-acclerating factor (DAF/CD55) and membrane inhibitor of reactive lysis (MIRL/CD59).

Causes complement-mediated lysis of RBCs.

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122
Q

IL-8

A

neutrophil chemotaxis

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123
Q

IL-12

A

Induces differentiation of T cells into Th1 cells. Activates NK cells.

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124
Q

TNF-a

A

Activates endothelium, causes WBC recruitment and vascular leak.

Causes cachexia in malignancy.
Maintains granulomas in TB.
IL-1, IL-6, TNF-α can mediate fever and sepsis.

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125
Q

IL-1

A

Causes fever, acute inflammation. Activates endothelium to express adhesion molecules. Induces chemokine secretion to recruit WBCs. Also known as osteoclast-activating factor.

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126
Q

IL-6

A

Causes fever and stimulates production of acute- phase proteins

127
Q

Macrophages secrete

A

IL-1, Il-6, IL-8, IL-12, TNF-a

128
Q

IL-2

A

Stimulates growth of helper, cytotoxic, and regulatory T cells, and NK cells.

129
Q

IL-3

A

Supports growth and differentiation of bone marrow stem cells. Functions like GM-CSF.

130
Q

IFN-y

A

Secreted by NK cells and T cells in response to antigen or IL-12 from macrophages; stimulates macrophages to kill phagocytosed pathogens. Inhibits differentiation of Th2 cells.

Also activates NK cells to kill virus-infected cells. Increases MHC expression and antigen presentation by all cells.

131
Q

TH2 secrete

A

IL-4, IL-5, IL-10

132
Q

IL-4

A

Induces differentiation of T cells into Th (helper) 2 cells. Promotes growth of B cells. Enhances class switching to IgE and IgG.

133
Q

IL-5

A

Promotes growth and differentiation of B cells. Enhances class switching to IgA. Stimulates growth and differentiation of eosinophils.

134
Q

IL-10

A

Attenuates in ammatory response. Decreases expression of MHC class II and Th1 cytokines. Inhibits activated macrophages and dendritic cells. Also secreted by regulatory T cells.

135
Q

TGF-beta and IL-10

A

attenuate immune response

136
Q

Chronic granulomatous disease

A

NADPH oxidase deficiency - unable to kill organisms with respiratory burst

137
Q

Live attenuated vaccine

A

Pros: induces strong, often lifelong immunity.
Cons: may revert to virulent form. Often contraindicated in pregnancy and immunodeficiency.

Adenovirus (nonattenuated, given to military recruits), Polio (sabin), Varicella (chickenpox), Smallpox, BCG, Yellow fever, Influenza (intranasal), MMR, Rotavirus

“Attention! Please Vaccinate Small, Beautiful Young Infants with MMR Regularly!”

138
Q

Killed vaccine

A

Pros: safer than live vaccines. Cons: weaker immune
response; booster shots usually required.

Rabies, Influenza (injection), Polio (Salk), hepatitis A
SalK = Killed RIP Always

139
Q

Subunit vaccine

A

Pros: lower chance of adverse reactions.
Cons: expensive, weaker immune response.

HBV (antigen = HBsAg), HPV (types 6, 11, 16, and 18), acellular pertussis (aP), Neisseria meningitidis (various strains), Streptococcus pneumoniae, Haemophilus influenzae type b.

140
Q

Toxoid

A

Pros: protects against the bacterial toxins.
Cons: antitoxin levels decrease with time, may require a booster.

Clostridium tetani, Corynebacterium diphtheriae

141
Q

Hypersensitivities

A 
Four types (ABCD): 
A- Anaphylactic and Atopic (type I), 
B- AntiBody-mediated (type II), 
C- Immune Complex (type III), 
D- Delayed (cell-mediated, type IV).

Types I, II, and III are all antibody-mediated.

142
Q

Coombs tests

A

Direct Coombs test—detects antibodies attached directly to the RBC surface.

Indirect Coombs test—detects presence of unbound antibodies in the serum

143
Q

Type II hypersensitivity

A

Cellular destruction: Autoimmune-hemolytic anemia, Immune thrombocytopenia, Transfusion reactions, Hemolytic disease of the newborn

Inflammation: Goodpasture syndrome, Rheumatic fever, Hyperacute transplant rejection

Cellular dysfunction: Myasthenia gravis, Graves disease, Pemphigus vulgaris

144
Q

Arthus reaction

A

(type III hypersensitivity)
A local subacute immune complex-mediated (type III) hypersensitivity reaction. Intradermal injection of antigen into a presensitized (has circulating IgG) individual leads to immune complex formation in the skin. Characterized by edema, necrosis, and activation of complement.

145
Q

Serum sickness

A

(type III hypersensitivity)
Fever, urticaria, arthralgia, proteinuria, lymphadenopathy occur 1–2 weeks after antigen exposure. Serum sickness-like reactions are associated with some drugs (may act as haptens, eg, penicillin) and infections (eg, hepatitis B).

The prototype immune complex disease. Antibodies to foreign proteins are produced and 1–2 weeks later, antibody- antigen complexes form and deposit in tissues –> Žcomplement activationŽ –> inflammation and tissue damage.

146
Q

Type 4 hypersensitivity

A

Response does not involve antibodies (vs types I, II, and III).

  • contact dermatitis (eg, poison ivy, nickel allergy)
  • graft-versus-host disease.
Tests (purpose): PPD (tuberculosis infection);
patch test (cause of contact dermatitis);
Candida extract (T cell immune function).

4T’s: T cells, Transplant rejections, TB skin tests, Touching (contact dermatitis).

147
Q

Transfusion-related acute lung injury

A

Donor anti-leukocyte antibodies against recipient neutrophils and pulmonary endothelial cells.

Respiratory distress and noncardiogenic pulmonary edema.

Within 6 hours

148
Q

Acute hemolytic transfusion reaction

A

Type II hypersensitivity reaction. Intravascular hemolysis (ABO blood group incompatibility) or extravascular hemolysis (host antibody reaction against foreign antigen on donor RBCs).

Fever, hypotension, tachypnea, tachycardia, ank pain, hemoglobinuria (intravascular hemolysis), jaundice (extravascular).

Within 1 hour

149
Q

Febrile non-hemolytic transfusion reaction

A

Two known mechanisms: type II hypersensitivity reaction with host antibodies against donor HLA and WBCs; and induced by cytokines that are created and accumulate
during the storage of blood products.

Fever, headaches, chills, ushing.

Within 1–6 hours

150
Q

Anaphylaxis to transfusion

A

Type I hypersensitivity reaction against plasma proteins
in transfused blood. IgA- deficient individuals must receive blood products without IgA.

Urticaria, pruritus, fever, wheezing, hypotension, respiratory arrest, shock.

Within minutes to 2–3 hours

151
Q

Anti-β2 glycoprotein

A

Antiphospholipid syndrome

152
Q

ANA

A

nonspecific screening antibody - a/w SLE

153
Q

Anticardiolipin, lupus anticoagulant

A

SLE, antiphospholipid syndrom

154
Q

Anti-dsDNA, anti-Smith

A

SLE (anti-smith are against snRNPs)

155
Q

Anti-histone

A

drug induced lupus

156
Q

Anti-U1-RNP

A

Mixed connective tissue disease

157
Q

Rheumatoid factor and anti-CCP

A

IgM Ab against fC of IgG

Rheumatoid arthritis

158
Q

Anti-Ro/SSA, anti-La/SSB

A

Sjogren’s Syndrome

159
Q

Anti-Scl-70 (anti-DNA topoisomerase I)

A

Diffuse scleroderma

160
Q

Anti-cetromere

A

Limited scleroderma - CREST syndrome

Calcinosis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia

161
Q

Antisynthetase (anti-Jo-1) anti-SRP, anti-helicase (anti-Mi-2)

A

Polymyositis and dermatomyositis

162
Q

Antimitochondrial 1° biliary cirrhosis

A

Antimitochondrial 1° biliary cirrhosis

163
Q

Anti-smooth muscle

A

Autoimmune hepatitis type 1

164
Q

MPO-ANCA/p-ANCA

A

Microscopic polyangiitis

Eosinophilic granulomatosis with polyangiitis (Churg- Strauss syndrome)

Ulcerative colitis

165
Q

PR3-ANCA/c-ANCA

A

Granulomatosis with polyangiitis (Wegener)

166
Q

Anti-phospholipase A2 receptor

A

1° membranous nephropathy

167
Q

Antimicrosomal, antithyroglobulin, antithyroid peroxidase

A

Hashimoto

168
Q

Anti-TSH receptor

A

Graves

169
Q

IgA anti-endomysial, IgA anti-tissue transglutaminase, IgA and IgG deamidated gliadin peptide

A

Celiac

170
Q

Anti-glutamic acid decarboxylase, islet cell cytoplasmic antibodies

A

Type I DM

171
Q

Thymic aplasia (diGeorge)

A

Decreased T cells, decreased PTH, decreased Ca2+. Thymic shadow absent on CXR.

Tetany (hypocalcemia), recurrent viral/fungal infections (T-cell de ciency), conotruncal abnormalities

Failure to develop 3rd/4th pharyngeal pouches - absent parathyroids and thymus

172
Q

IL-12 receptor deficiency

A

Decreased Th1 response. Autosomal recessive.

Disseminated mycobacterial and fungal infections; may present after administration of BCG vaccine.

Decreased IFN-γ.

173
Q

Autosomal dominant hyper-IgE syndrome (Job syndrome)

A

Deficiency of Th17 cells due to STAT3 mutation –> Žimpaired recruitment of neutrophils to sites of infection.

FATED: coarse Facies, cold (noninflamed) staphylococcal Abscesses, retained primary Teeth, increased IgE, Dermatologic problems (eczema). Bone fractures from minor trauma.

 Increased IgE and eosinophils.

174
Q

Ataxia telangiectasia

A

Defects in ATM gene –> Žfailure to detect DNA damage –> Žfailure to halt progression of cell cycleŽ –> mutations accumulate; autosomal recessive.

Cerebellar defects (Ataxia), spider Angiomas (telangiectasia A ), IgA deficiency.

Increased AFP.
Decreased IgA, IgG, and IgE.
Lymphopenia, cerebellar atrophy.
Increased risk of lymphoma and leukemia.

175
Q

Hyper IgM syndrome

A

Most commonly due to defective CD40L on Th cells Ž–> class switching defect; X-linked recessive.

Severe pyogenic infections early in life; opportunistic infection with Pneumocystis, Cryptosporidium, CMV.

Failure to make germinal centers

176
Q

Wiskott-Aldrich syndrome

A

Mutation in WASp gene; leukocytes and platelets unable to reorganize actin cytoskeletonŽ –> defective antigen presentation; X-linked recessive.

WATER: Wiskott-Aldrich: Thrombocytopenia, Eczema, Recurrent (pyogenic) infections. Increased risk of autoimmune disease and malignancy.

Decreased to normal IgG and IgM
Increased IgE and IgA
Fewer and smaller platelets

177
Q

Defective IL-2R gamma chain

A

Most common form of SCID (>ADA deficiency)

X-linked recessive

178
Q

Leukocyte adhesion de ciency (type 1)

A

Defect in LFA-1 integrin (CD18) protein on phagocytes; impaired migration and chemotaxis; autosomal recessive.

Recurrent skin and mucosal bacterial infections, absent pus, impaired wound healing, delayed (> 30 days) separation of umbilical cord.

neutrophils in blood. Absence of neutrophils at
infection sites.

179
Q

Chédiak-Higashi syndrome

A

Defect in lysosomal trafficking regulator gene (LYST).
Microtubule dysfunction in phagosome-lysosome fusion; autosomal recessive.

PLAIN: Progressive neurodegeneration, Lymphohistiocytosis, Albinism (partial), recurrent pyogenic Infections by staphylococci and streptococci, peripheral Neuropathy.

Giant granules in granulocytes and platelets. Pancytopenia. Mild coagulation defects.

180
Q

Chronic granulomatous disease

A

Defect of NADPH oxidase –> decreased Žreactive oxygen species) and defective respiratory burst in neutrophils; X-linked form most common.

Catalase (+) organism susceptibility

Abnormal dihydrorhodamine ( ow cytometry) test (green uorescence).

Nitroblue tetrazolium dye reduction test (obsolete) fails to turn blue.

181
Q

Early complement deficiency

A

Infection w/ encapsulated species

Late complement (C5-C9) = Neisseria

182
Q

T cell deficiency

A

fungal and viral infections

183
Q

B cell deficiencies

A

bacterial infections

184
Q

Hyperacute transplant rejection

A

W/in minutes -

Pre-existing recipient antibodies react to donor antigen (type II hypersensitivity reaction), activate complement

Widespread thrombosis of graft vessels, ischemia/necrosis.

Graft must be removed..

185
Q

Acute rejection

A

Weeks-months

Cellular: CD8+ T cells and/or CD4+ T cells activated against donor MHCs (type IV hypersensitivity reaction).

Humoral: similar to hyperacute, except antibodies develop after transplant

Vasculitis of graft vessels with dense interstitial lymphocytic infiltrate. Prevent/reverse with immunosuppressants.

186
Q

Chronic rejection

A

Months-years

CD4+ T cells respond to recipient APCs presenting donor peptides, including allogeneic MHC. type II and IV hypersensitivity reactions.

Recipient T cells react and secrete cytokinesŽproliferation of vascular smooth muscle, parenchymal atrophy, interstitial brosis. Dominated by arteriosclerosis.

ƒBronchiolitis obliterans (lung), Accelerated atherosclerosis (heart), Chronic graft nephropathy (kidney), Vanishing bile duct syndrome (liver)

187
Q

Graft vs. host disease

A

Grafted immunocompetent T cells proliferate in the immunocompromised host and reject host cells with “foreign” proteins –> Žsevere organ dysfunction. Type IV hypersensitivity reaction

Maculopapular rash, jaundice, diarrhea, hepatosplenomegaly.

Usually in bone marrow and liver transplants (rich in lymphocytes).

Potentially beneficial in bone marrow transplant for leukemia (graft-versus-tumor effect).

188
Q

Cyclosporine

A

Calcineurin inhibitor - prevents IL-2 transcription –> blocks T cell activation

Nephrotoxicity, hypertension, hyperlipidemia, neurotoxicity, gingival hyperplasia, hirsutism.

189
Q

Tacrilomus (FK506)

A

Calcineurin inhibitor; binds FK506 binding protein (FKBP). Blocks T-cell activation by preventing IL-2 transcription.

SE’s similar to cyclosporine (Nephrotoxicity, hypertension, hyperlipidemia, neurotoxicity), risk of diabetes and neurotoxicity; no gingival hyperplasia or hirsutism

190
Q

Sirilomus (raoamycin

A

mTOR inhibitor; binds FKBP. Blocks T-cell activation and B-cell differentiation by preventing response to IL-2.

Used for kidney transplant rejection prophylaxis

SE’s: pancytopenia, insulin resistance, hyperlipidemia; not nephrotoxic.

191
Q

Basiliximab

A

MAB against IL-2R

Used for kidney transplant rejection prophylaxis

SE’s: edema, HTN, tremor

192
Q

Azathioprine

A

Antimetabolite precursor of 6-mercaptopurine. Inhibits lymphocyte proliferation by blocking nucleotide synthesis.

Cuases pancytopenia

Degraded by xanthine oxidase - toxicity increased by allopurinol.

193
Q

Mycophenolate Mofetil

A

Reversibly inhibits IMP dehydrogenase, preventing purine synthesis of B and T cells.

SE’s: GI upset, pancytopenia, hypertension, hyperglycemia. Less nephrotoxic and neurotoxic.

a/w invasive CMV

194
Q

Glucocorticoids

A

Inhibit NF-κB. Suppress both B- and T-cell function by transcription of many cytokines. Induce T cell apoptosis.

SE’s: Cushing syndrome, osteoporosis, hyperglycemia, diabetes, amenorrhea, adrenocortical atrophy, peptic ulcers, psychosis, cataracts, avascular necrosis (femoral head)

Demargination of WBCs causes artificial leukocytosis. Adrenal insufficiency may develop if drug is stopped abruptly after chronic use.

195
Q

Glucose reabsorption

A

At PCT via Na/glucose cotransport

196
Q

Glucosuria

A

Begins at plasma glucose ~200mg/dL

In pregnancy there in increased GFR and increased FF –> increased filtration of all substance –> glucosuria at normal plasma glucose

197
Q

SGLT2 inhibitors

A

Sodium-glucose cotranporter 2 inhibitors - prevent glucose resorption in PCT

-flozin drugs

result in glycosuria <200mg/dl (pee out glucose)

198
Q

Potter’s sequence

A

Oligohydramnios (e.g. from renal agenesis)

limb deformities, facial anomalies, pulmonary hypoplasia

POTTER 
Pulmonary hypoplasia 
Oligohydramnios (trigger) 
Twisted face
Twisted skin 
Extremity defects 
Renal failure (in utero)
199
Q

Pronephros, mesonephros, metanephros

A

Pronephros—week 4; then degenerates.

Mesonephros—functions as interim kidney for 1st trimester; later contributes to male genitalia

Metanephros—permanent; 1st appears in 5th
week of gestation; nephrogenesis continues through weeks 32–36 of gestation.

200
Q

Ureteric bud

A

Derived from caudal end of mesonephric duct;

gives rise to ureter, pelvises, calyces, collecting ducts; fully canalized by 10th week

201
Q

ureteropelvic junction

A

Last to canalize –> Žmost common site of obstruction (can be detected on prenatal ultrasound as hydronephrosis)

202
Q

Ureter course

A

Under uterine artery/vas deferens

Over common iliac artery

Over iliac

Water (ureter) under the bridge (uterine artery/vas)

203
Q

Renal clearance

A

Cx = (UxV)/Px = volume of plasma from which the substance is completely cleared per unit time.

Cx < GFR: net tubular reabsorption of X.
Cx > GFR: net tubular secretion of X.
Cx = GFR: no net secretion or reabsorption.

204
Q

Effective renal plasma flow

A

can be estimated using para-aminohippuric acid (PAH) clearance, which is nearly 100% excreted

eRPF = UPAH × V/PPAH = CPAH

eRPF underestimates true renal plasma flow (RPF) slightly.

205
Q

Renal blood flow

A

(RBF) = RPF/(1 − Hct).

Usually 20–25% of cardiac output. Plasma volume = TBV × (1 – Hct).

206
Q

filtration fraction

A

FF=GFR/RPF

Normal is ~20%

207
Q

Effect of prostaglandins and angiotensin II on arterioles

A

PDA - Prostaglandins Dilate Afferent

ACE - Angiotensin II Constricts Efferent

208
Q

PCT

A

Reabsorbs all glucose and amino acids and most HCO3-, Na+, Cl–, PO43–, K+, H2O, and uric acid.

Generates and secretes NH3, which enables the kidney to secrete more CI H+.

PTH—inhibits Na+/PO43– cotransport –> PO43– excretion. H2O

AT II—stimulates Na+/H+ exchange –> increased Na+, H2O, and HCO3− reabsorption (permitting contraction alkalosis).

65–80% Na+ reabsorbed in PCT.

209
Q

DCT

A

Reabsorbs NA/CL.

Impermeable to H2O - urine is fully dilute

PTH— Ca2+/Na+ exchange –> increased Ca2+ reabsorption.

5-10% of Na+ reabsorption

210
Q

Thick descending loop

A

Passively reabsorbs H2O - concentrates urine making it hypertonic

211
Q

Thick ascending loop

A

Reabsorbs Na+, K+, and Cl−.

Indirectly induces paracellular reabsorption of Mg2+ and Ca2+ through ⊕ lumen potential generated by K+ backleak.

Impermeable to H2O. Makes urine less concentrated as it ascends.

10–20% Na+ reabsorbed.

212
Q

Collecting tubule

A

Reabsorbs Na+ by secreting K+ and H+ (regulated by aldosterone).

Aldosterone:
In principal cells: increase apical K+ conductance, increase Na+/K+ pump, increase epithelial Na+ channel (ENaC) activity –> lumen negativity –> K+ secretion.

α-intercalated cells: lumen negativity –> H+ ATPase activity –> increased H+ secretion –> increased HCO3−/Cl− exchanger activity.

ADH—acts at V2 receptor insertion of aquaporin

3–5% Na+ reabsorbed.

213
Q

Renal tubular defects

A

Fanconi - PCT

Barter - Thick ascending limb

Gitelman - DCT

Liddle - collecting tubules

SIADH - collecting tubules

214
Q

Fanconi syndrome

A

Generalized reabsorption defect in PCT –> Žexcretion of amino acids, glucose, HCO3–, and PO43–, and all substances reabsorbed by the PCT

May lead to metabolic acidosis (proximal RTA), hypophosphatemia, osteopenia

Causes:
Hereditary defects (eg, Wilson disease, tyrosinemia, glycogen storage disease)
Ischemia,
Multiple myeloma,
Nephrotoxins/drugs (eg, ifosfamide, cisplatin, expired tetracyclines),
Lead poisoning

215
Q

Bartter syndrome

A

Autosomal recessive

Resorptive defect in thick ascending loop of Henle (affects Na+/K+/2Cl– cotransporter)

Metabolic alkalosis, hypokalemia, hypercalciuria

Presents similarly to chronic loop diuretic use

216
Q

Gitelman syndrome

A

Autosomal recessive

Reabsorption defect of NaCl in DCT

Metabolic alkalosis, hypomagnesemia, hypokalemia, hypocalciuria

Presents similarly to lifelong thiazide diuretic use, less severe than Bartter syndrome

217
Q

Liddle syndrome

A

Autosomal dominant

Gain of function mutationŽ –> increased activity of Na+ channel –> ŽNa+ reabsorption in collecting tubules

Metabolic alkalosis, hypokalemia, hypertension, decreased aldosterone

Similar to hyperaldosteronism, but aldosterone is nearly undetectable

Treat with amiloride

218
Q

RAAS activation

A

Decreased BP - renal baroreceptors

decreased NaCl delivery - macula dense

Increased sympathetic tone - beta-1 receptors

219
Q

Angiotensin II

A

Vasoconstricts

Constricts efferent arteriole to preserve GFR with decreased RBF

Increases Na+/H+ activity in PCT for Na+, HCO3-. and H2O reabsorption

Increases aldosterone secretion –> Increased Na+ reabsorption and K+ secretion

Stimulates ADH release

220
Q

Renin

A

Secreted by JG cells in response to:
- decreased renal perfusion pressure (detected by renal baroreceptors in afferent arteriole)

  • increased renal sympathetic discharge (β1 effect)
  •  decreased NaCl delivery to macula densa cells
221
Q

ANP/BNP

A

Released from atria (ANP) and ventricles (BNP) in response to increased volume

Acts as a “check” on RAAS

Relaxes vascular smooth muscle via cGMP –> increase ŽGFR, and decrease renin.

Dilates afferent arteriole, constricts efferent arteriole, promotes natriuresis.

222
Q

Calciferol - Vit D

A

PCT cells convert 25-OH vitamin D3 to 1,25- (OH)2 vitamin D3 (calcitriol, active form)

223
Q

Dopamine in kidney

A

Secreted by PCT cells, promotes natriuresis.

Low dose: dilates interlobular arteries, afferent arterioles, efferent arteriolesŽ–> increase RBF, little
or no change in GFR.

High dose: acts as vasoconstrictor.

224
Q

Parathyroid hormone in kidney

A

Secreted in response to↓ plasma [Ca2+], ↑ plasma [PO43–], or ↓ plasma 1,25-(OH)2 D3.

Causes ↑ [Ca2+] reabsorption (DCT),
↓ [PO43–] reabsorption (PCT),
↑ 1,25-(OH)2 D3 production

(↑ Ca2+ and PO43– absorption from gut via vitamin D).

225
Q

Shifts K+ into cell

A

hypo-osmolarity

Alkalosis

beat adrenergic agonist (increase Na+/K+ ATPase)

Insulin (increase Na+/K+ ATPase)
Insulin shifts K+ into cells

226
Q

Shifts K+ out of cell

A

Digitalis (blocks Na+/K+ ATPase)
HyperOsmolarity
Lysis of cells (eg, crush injury, rhabdomyolysis, tumor lysis syndrome)
Acidosis
β-blocker
High blood Sugar (insulin deficiency)
Succinylcholine (risk in burns/muscle trauma)

227
Q

Hypokalemia

A

U waves and attened T waves on ECG,

arrhythmias, muscle cramps, spasm, weakness

228
Q

Hyperkalemia

A

Wide QRS and peaked T waves on ECG, arrhythmias, muscle weakness

229
Q

Hypercalcemia

A

Stones (renal), bones (pain), groans (abdominal pain), thrones (urinary frequency), psychiatric overtones (anxiety, altered mental status)

230
Q

Hypocalcemia

A

Tetany, seizures, QT prolongation, twitching (Chvostek sign), spasm (Trousseau sign)

231
Q

Hypomagnesia

A

Tetany, torsades de pointes, hypokalemia, hypocalcemia (when [Mg2+] < 1.2 mg/dL)

232
Q

Hypermagnesia

A

DTRs, lethargy, bradycardia, hypotension, cardiac arrest, hypocalcemia

233
Q

Hypophosphatemia

A

Bone loss, osteomalacia (adults), rickets (children)

234
Q

Hyperphosphatemia

A

Renal stones, metastatic calci cations, hypocalcemia

235
Q

Respiratory acidosis

A

HYPOVENTILATION

Airway obstruction
Acute or chronic lung disease
Opioids/sedatives
Weakening of respiratory muscles

236
Q

Respiratory alkalosis

A

HYPERVENTILATION

Anxiety/panic attack 
Hypoxemia (eg, high altitude) 
Salicylates (early)
Tumor
Pulmonary embolism
237
Q

Metabolic alkalosis

A

H+ loss/HCO3– excess

Loop diuretics
Vomiting
Antacid use
Hyperaldosteronism

238
Q

Raised anion gap metabolic acidosis >12

A 
MUDPILES
Methanol (formic acid) 
Uremia
Diabetic ketoacidosis 
Propylene glycol
Iron tablets or INH
Lactic acidosis
Ethylene glycol (oxalic acid) 
Salicylates (late)
239
Q

Normal anion gap metabolic acidosis

A 
HARDASS
Hyperalimentation
Addison disease
Renal tubular acidosis 
Diarrhea 
Acetazolamide 
Spironolactone 
Saline infusion
240
Q

Anion gap

A

= Na+ - (CI- + HCO3)

> 12 mEq/L is raise

8-12 is normal

241
Q

Distal renal tubular acidosis - Type I

A

Inability of α-intercalated cells to secrete H+ Ž –> no new HCO3– generated Ž–> metabolic acidosis

Urine pH > 5.5 - hypokalemic

Amphotericin B toxicity, analgesic nephropathy, congenital anomalies (obstruction) of urinary tract, autoimmune diseases (eg, SLE)

Increased risk for calcium phosphate kidney stones

242
Q

Proximal renal tubular acidosis

A

Defect in PCT HCO3– reabsorption –> increased Žexcretion of HCO3– in urine –> Žmetabolic acidosis

Urine can be acidified by α-intercalated cells in collecting duct, but not enough to overcome the increased excretion of HCO3–Žmetabolic acidosis

Urine pH < 5.5 - hypokalemic

Cause: Fanconi syndrome, multiple myeloma, carbonic anhydrase inhibitors

Increased risk for hypophosphatemic rickets (in Fanconi syndrome)

243
Q

Hyperkalemic tubular acidosis - Type 4

A

Hypoaldosteronism or aldosterone resistance; hyperkalemia–> decreased ŽNH3 synthesis in PCT Ž–> decreased NH4+ excretion

Urine pH < 5.5 (or variable) - hyperkalemic

Decreased aldosterone production (eg, diabetic hyporeninism, ACE inhibitors, ARBs, NSAIDs, heparin, cyclosporine, adrenal insuf ciency) or aldosterone resistance (eg, K+-sparing diuretics, nephropathy due to obstruction, TMP-SMX)

244
Q

RBC casts

A

glomerulonephritis, hypertensive emergency

245
Q

WBC casts

A

acute pyelonephritis, transplant rejection, tubulointerstitial inflammation

246
Q

Fatty casts (oval fat bodies)

A

nephrotic syndrome - maltese cross sign

247
Q

Granular casts

A

“muddy brown”

Acute tubular necrosis

248
Q

Waxy casts

A

End-stage renal disease

Chronic renal failure

249
Q

Hyaline casts

A

Nonspecific - concentrated urine samples

250
Q

Nephritic syndrome

A

Due to GBM disruption.

Hypertension, ↑ BUN and creatinine, oliguria, hematuria, RBC casts in urine. Proteinuria < 3.5 g/day, but in severe cases may be in nephrotic range >3.5 g/day.
• Acute poststreptococcal glomerulonephritis
• Rapidly progressive glomerulonephritis
• IgA nephropathy (Berger disease)
• Alport syndrome
• Membranoproliferative glomerulonephritis

251
Q

Nephritic-nephrotic syndrome

A

Severe nephritic syndrome with profound GBM damage that damages the glomerular filtration charge barrier → nephrotic-range proteinuria (> 3.5 g/day) and concomitant features of nephrotic syndrome.

Can occur with any form of nephritic syndrome, but is most commonly seen with:
• Diffuse proliferative glomerulonephritis
• Membranoproliferative glomerulonephritis

252
Q

Nephrotic

A

Podocyte disruption → charge barrier impaired.

Massive proteinuria (> 3.5 g/day) with hypoalbuminemia, hyperlipidemia, edema. May be 1° (eg, direct podocyte damage) or 2° (podocyte damage from systemic process [eg, diabetes]).
• Focal segmental glomerulosclerosis (1° or 2°)
• Minimal change disease (1° or 2°)
• Membranous nephropathy (1° or 2°)
• Amyloidosis (2°)
• Diabetic glomerulonephropathy (2°)

253
Q

FSGS

A

Most common nephrotic syndrome in African-Americans and Hispanics.

Can be 1° or 2° to other conditions (eg, HIV infection, sickle cell disease, heroin abuse, massive obesity, interferon treatment, or congenital malformations).

1° disease has inconsistent response to steroids. May progress to CKD.

LM—segmental sclerosis and hyalinosis B
EM—effacement of foot processes similar to minimal change disease

254
Q

Membranous nephropathy

A

Can be 1° (eg, antibodies to phospholipase A2 receptor) or 2° to drugs (eg, NSAIDs, penicillamine,
gold), infections (eg, HBV, HCV, syphilis), SLE, or solid tumors.

1° disease has poor response to steroids. May progress to CKD.

ƒ LM—diffuse capillary and GBM thickening
ƒ IF—granular due to IC deposition
ƒ EM—“SPIKE AND DOME” appearance of subepithelial deposits

255
Q

General details about nephritic

A

NephrItic syndrome = Inflammatory process.

Leads to hematuria and RBC casts in urine.

A/w azotemia, oliguria, hypertension (due to salt retention), proteinuria, hypercellular/inflamed glomeruli on biopsy.

256
Q

Post strep glomerulonephritis

A

Adult prognosis is poor - kids is good

Type III hypersensitivity reaction.

Presents with peripheral and periorbital edema, cola-colored urine, HTN. ⊕ strep titers/serologies, decreased complement levels (C3) due to consumption.
ƒ
LM—glomeruli enlarged and hypercellular A
ƒIF—(“starry sky”) granular appearance (“lumpy-bumpy”) due to IgG, IgM, and C3 deposition along GBM and mesangium
ƒEM—subepithelial immune complex (IC) humps

257
Q

Rapidly progressive (crescentic) glomerulonephritis

A

Poor prognosis, rapidly deteriorating renal function (days to weeks).
ƒ
LM—crescent moon shape C . Crescents consist of fibrin and plasma proteins (eg, C3b) with glomerular parietal cells, monocytes, macrophages

ƒLinear IF due to antibodies to GBM and alveolar basement membrane: Goodpasture syndrome— type II hypersensitivity reaction; Treatment: plasmapheresis
ƒ
Negative IF/Pauci-immune (no Ig/C3 deposition): Granulomatosis with polyangiitis (Wegener)—PR3-ANCA/c-ANCA or Microscopic polyangiitis—MPO-ANCA/p-ANCA
ƒ
Granular IF—PSGN or DPGN

258
Q

Diffuse proliferative glomerulonephritis

A

Wire loops - lupus.

ƒLM—“wire looping” of capillaries
ƒIF—granular;
EM—subendothelial and sometimes intramembranous IgG-based ICs often with C3 deposition

259
Q

IgA nephropathy

A

Berge disease

Episodic hematuria that occurs concurrently with respiratory or GI tract infections (IgA is secreted by mucosal linings). 
ƒ 
LM—mesangial proliferation
ƒIF—IgA-based IC deposits in mesangium; 
EM—mesangial IC deposition
260
Q

Alport

A

Mutation in type IV collagenŽ –> thinning and splitting of glomerular basement membrane.

X-linked dominant.

Eye problems (eg, retinopathy, lens dislocation),
glomerulonephritis, sensorineural deafness; “can’t see, can’t pee, can’t hear a bee.” ƒ

EM—“Basket-weave”

261
Q

Membrano-proliferative glomerulonephritis

A

Nephritic syndrome, often co-presents with nephrotic syndrome.

Type I may be 2° to hepatitis B or C infection.
ƒ - Subendothelial IC deposits with granular IF

Type II is associated with C3 nephritic factor (IgG antibody that stabilizes C3 convertaseŽ –> persistent complement activation –> ŽC3 levels).
ƒ - Intramembranous deposits, also called dense deposit disease

In both types, mesangial ingrowthŽ –> GBM splittingŽ“tram-track” appearance on H&E and PAS stains.

262
Q

Ammonium magnesium phosphate stones

A

Radioopaque - coffin lid appearance

Also known as struvite; account for 15% of stones.

Caused by infection with urease ⊕ bugs (eg, Proteus mirabilis, Staphylococcus saprophyticus, Klebsiella).

Form staghorn calculi

Treatment: eradicate underlying infection, surgical removal of stone.

263
Q

Uric acid stone

A

Rodiolucent - rhomboid

About 5% of all stones.

Risk factors: decreased urine volume, arid climates, acidic pH.

Strong association with hyperuricemia. Often seen in diseases withcell turnover (eg, leukemia).

Treatment: alkalinization of urine, allopurinol.

264
Q

Cystine stones

A

Hexagonal stones

Hereditary (autosomal recessive) condition in which Cystine-reabsorbing PCT transporter loses function, causing cystinuria. Poor reabsorption of Cystine Ornithine, Lysine, Arginine (COLA).

Cystine is poorly soluble –> stones form in urine beginning in childhood.

Can form staghorn calculi.

Sodium cyanide nitroprusside test ⊕.

Treatment: low sodium diet, alkalinization of urine, chelating agents if refractory.

265
Q

Wilms tumor

A

WT1 or WT2 (tumor suppressors) deletion/mutation on chromosome 11

Most common renal malignancy of early childhood

266
Q

WAGR complex

A

Wilms tumor, Aniridia (absence of iris), Genitourinary malformations, mental Retardation/intellectual disability

WT1 deletion

267
Q

Denys-Drash syndrome

A

Wilms tumor, Diffuse mesangial sclerosis (early-onset nephrotic syndrome), Dysgenesis of gonads (male pseudohermaphroditism)

WT1 mutation

268
Q

Beckwith Weidemann syndrome

A

Wilms tumor, macroglossia, organomegaly, hemihyperplasia

WT2 mutation

269
Q

Acute poststreptococcal glomerulonephritis

A

Subepithelial immune complex humps

270
Q

Alport syndrome

A

Split basement membrane

271
Q

Diffuse proliferative glomerulonephritis

A

“Wire looping” of capillaries

272
Q

IgA nephropathy

A

Immune complexes in mesangium

273
Q

Rapidly progressive glomerulonephritis

A

Crescent-moon shape

274
Q

Membranoproliferative glomerulonephritis

A

“Tram-track” appearance on EM

275
Q

Granulomatosis with polyangiitis (Wegener)

A

PR3-ANCA/c-ANCA

276
Q

Microscopic polyangiitis

A

MPO-ANCA/p-ANCA

277
Q

Nephrotic

A

Massive proteinuria (>3.5 g/day), hyperlipidemia, hypoalbuminemia, and edema.

278
Q

Nephritic

A

Azotemia (increased BUN and Cr), oliguria, hypertension, and proteinuria <3.5 g/day.

279
Q

Focal segmental glomerulosclerosis

A

Hyalinosis on LM

280
Q

Membranous nephropathy

A

“Spike-and-dome appearance” on EM

281
Q

Focal segmental glomerular sclerosis

A

most common cause of nephrotic syndrome in African Americans and Hispanics

282
Q

CD14

A

on macrophages - binds Lipid A from bacterial LPS

283
Q

Ma prophages in different tissues

A

Kupffer cells in liver, histiocytes in connective tissue, Langerhans cells in skin, osteoclasts in bone, microglial cells in brain

284
Q

Fetal erythropoiesis occurs in:

A

ƒYolk sac (3–8 weeks)
ƒLiver (6 weeks–birth)
ƒSpleen (10–28 weeks)
ƒBone marrow (18 weeks to adult)

Young Liver Synthesizes Blood

285
Q

Plummer-Vinson syndrome

A

(triad of iron de ciency anemia, esophageal webs, and dysphagia).

286
Q

Diamond-Blackfan anemia

A

Short stature, craniofacial abnormalities, and

upper extremity malformations (triphalangeal thumbs) in up to 50% of cases.

287
Q

Warm Autoimmune hemolytic anemia

A

Warm (IgG)—chronic anemia

SLE and CLL and with certain drugs (eg, α-methyldopa)

288
Q

Cold autoimmune hemolytic anemia

A

Cold (IgM and complement)—acute anemia triggered by cold;

CLL, Mycoplasma pneumoniae infections, and infectious Mononucleosis.

RBC agglutinates may cause painful, blue fingers and toes with cold exposure.

289
Q

Lead poisoning

A

Defect: Ferrochelatase and ALA dehydratase

Accumulates: Protoporphyrin, ALA (blood)

290
Q

Acute intermittent porphyria

A

Defect: Porphobilinogen deaminase, previously known as uroporphyrinogen I synthase (autosomal dominant mutation)

Accumulates: ALA, porphobilinogen

Painful abdomen,ƒ Port wine–colored urine,ƒ Polyneuropathy, Psychological disturbances, Precipitated by drugs (eg, cytochrome P-450 inducers), alcohol, starvation

Treatment: hemin and glucose, which inhibit
ALA synthase.

291
Q

Porphyria cutanea tarda

A

Defect: Uroporphyrinogen decarboxylase (autosomal dominant mutation)

Accumulates: Uroporphyrin (tea- colored urine)

Blistering cutaneous photosensitivity and hyperpigmentation

Most common porphyria. Exacerbated with alcohol consumption.

Associated with hepatitis C.

292
Q

Bernard-Soulier syndrome

A

Defect in platelet plug formation.

Decreased GpIbŽ –> defect in platelet-to-vWF adhesion.

Abnormal ristocetin test that does not correct with mixing studies.

293
Q

Glanzmann thrombasthenia

A

Defect in platelet integrin αIIbβ3 (GpIIb/IIIa)Ž –> defect in platelet-to-platelet aggregation, and therefore platelet plug formation.

Labs: blood smear shows no platelet clumping.

294
Q

Hemolytic-uremic syndrome

A

thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure.

Shiga-like toxin of enterohemorrhagic E coli (EHEC) (eg, O157:H7).

HUS in adults does not present with diarrhea; EHEC infection not required.

Initial treatment of plasmapheresis.

295
Q

Immune thrombocytopenia

A

Anti-GpIIb/IIIa antibodies –> Žsplenic macrophage consumption of platelet-antibody complex. May be 1° (idiopathic) or 2° to autoimmune disorder, viral illness, malignancy, or drug reaction.

Labs: increased megakaryocytes on bone marrow biopsy.

Treatment: steroids, IVIG; rituximab or splenectomy for refractory ITP.

296
Q

Thrombotic thrombocytopenic purpura

A

Inhibition or de ciency of ADAMTS 13 (vWF metalloprotease) decreased Ždegradation of vWF multimers.

Labs: schistocytes, increased LDH, normal coagulation parameters.

Symptoms (FAT RN): pentad of Fever, microangiopathic hemolytic Anemia, Thrombocytopenia, Renal failure, Neurologic symptoms.

Treatment: plasmapheresis, steroids.

297
Q

Types of hodgkin’s lymphoma

A

Nodular sclerosis - Most common
Lymphocyte rich - Best prognosis
Mixed cellularity - Eosinophilia, seen in immunocompromised patients
Lymphocyte depleted - Seen in immunocompromised patients

298
Q

Tumor Lysis Syndrome

A

Oncologic emergency triggered by massive tumor cell lysis, most often in lymphomas/leukemias.

Release of K+ Ž–> hyperkalemia, release of PO43– Ž –> hyperphosphatemia –> hypocalcemia due to Ca2+ sequestration by PO43–.

Nucleic acid breakdown Ž–> hyperuricemia –> Žacute kidney injury.

Prevention and treatment include aggressive hydration, allopurinol, rasburicase.

299
Q

HLA-DR3

A

Hashimotos

Anti-thyroid peroxidase (microsomal) and antithyroglobulin antibodies

300
Q

Bicarbonate

A

Released by mucosal cells (stomach, duodenum, salivary glands, pancreas) and Brunner glands (duodenum)

Increased by pancreatic and biliary secretion with secretin

301
Q

Pepsin

A

Released by chief cells (stomach) - Digests protein

Release increased by vagal stimulation (ACh), local acid

Pepsinogen (inactive) is converted to pepsin (active) in the presence of H+.

302
Q

Gastric acid

A

Released by parietal cells - stimulated by histamine, vagal
stimulation (ACh), gastrin

Inhibited by by somatostatin, GIP, prostaglandin, secretin

303
Q

Vasoactive intestinal polypeptide

A

Released from parasympathetic ganglia in sphincters, gallbladder, small intestine

Action: Increases intestinal water and electrolyte secretion and relaxation of intestinal smooth muscle and sphincters

Increased by distention and vagal stimulation

Decreased by adrenergic input

304
Q

VIPoma

A

VIPoma—non-α, non-β islet cell pancreatic tumor that secretes VIP.

Watery Diarrhea, Hypokalemia, and Achlorhydria (WDHA syndrome).

305
Q

Secretin

A

Released by S cells (duodenum)

Action: Increases pancreatic HCO3– secretion, decreases gastric acid secretion, increases bile secretion

Activated by acid, fatty acids in lumen of duodenum

Increased HCO3– neutralizes gastric acid in duodenum, allowing pancreatic enzyme to function

306
Q

Cholecystokinin

A

Released by I cells in duodenum and jejunum

Action: Increases pancreatic secretion, gallbladder contraction, and sphincter of Odd relation. Dcreases gastric emptying

Activated by fatty acids and amino acids

307
Q

Somatostatin

A

Released by D cells (pancreatic islets and GI mucosa)

Action: Decreases gastric acid and pepsinogen secretion, pancreatic and small intestine fluid secretion, gallbladder contraction, insulin and glucagon release

Increased by acid, decreased by vagal stimulation

Inhibits secretion of various hormones (encourages somato-stasis). Octreotide is an analog used to treat acromegaly, carcinoid syndrome, and variceal bleeding.

308
Q

Hydralazine

A

Hypertension - pregnancy safe

Causes drug-induced lupus

Given w/ beta-blockers to avoid compensatory tachycardia

309
Q

Nitroprusside

A

Treats hypertensive urgency - increases cGMP –> NO release

Cyanide toxicity

310
Q

Fenoldopam

A

Dopamine D1 agonist –> vasodilation

Decrease BP increase naturesis

311
Q

Milrinone

A

PDE-3 inhibitor

increase cAMP –> positive isotropy and chronotropy in heart

Vasodilation in vascular smooth muscle

312
Q

Ezetimibe

A

Prevent cholesterol reabsorption in intestine brush border

313
Q

Bile acid resins

A

Cholesteramine, colestipol, colesnvelam

Prevent intestinal reabsorption of bile acids

314
Q

Fibrate

A

Gemfibrozil, bezafibrate, fenofibrate

Upregulate LPL –> increased TG clearance

Activate PPAR-alpha to in induce HDL synthesis

Increased risk of statin-induced myopathy and cholesterol gallstones

USMLE Step 1 practice exam flashcards (16 decks)

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