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FA > Rapid Review Pathophysiology Of Diseases > Flashcards

Rapid Review Pathophysiology Of Diseases Flashcards

1
Q

Lesch-Nyhan syndrome

A

Absent HGPRT Ž-> high de novo purine synthesis Ž-> high uric acid production

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2
Q

Osteogenesis imperfecta

A

Type 1 collagen defect due to inability to form triple helices

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3
Q

Menkes disease

A

Defective ATP7A protein Ž-> impaired copper absorption and transport Ž-> low lysyl oxidase activity Ž-> low collagen cross-linking

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4
Q

Marfan syndrome

A

FBN1 mutation on chromosome 15 -> defective fibrillin (normally forms sheath around elastin)

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5
Q

Prader-Willi syndrome

A

Uniparental disomy or imprinting leading to silencing of maternal gene. Disease expressed when paternal allele deleted or mutated

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6
Q

Angelman syndrome

A

Silenced gene leading to mutation, lack of expression, or deletion of UBE3A on maternal chromosome 15

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7
Q

Cystic fibrosis

A

Autosomal recessive ΔF508 deletion in CFTR gene on chromosome 7 -> impaired ATP-gated Cl − channel (secretes Cl − in lungs and GI tract and reabsorbs Cl − in sweat glands)

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8
Q

Duchenne muscular dystrophy

A

Dystrophin gene frameshift mutations -> loss of anchoring protein to ECM -> (dystrophin) Ž-> myonecrosis

Ž

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9
Q

Fragile X syndrome

A

Trinucleotide repeat in FMR1 gene -> hypermethylation -> expression

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10
Q

Kwashiorkor

A

Protein malnutrition -> oncotic pressure (Ž -> edema), low apolipoprotein synthesis (Ž -> liver fatty change)

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11
Q

Lactic acidosis, fasting hypoglycemia, hepatic steatosis in alcoholism

A

High NADH/NAD + ratio due to ethanol metabolism

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12
Q

Hereditary fructose intolerance

A

Aldolase B deficiency Ž-> Fructose-1-phosphate accumulates Ž-> low available phosphate Ž-> inhibition of glycogenolysis and gluconeogenesis

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13
Q

Classic galactosemia

A

Galactose-1-phosphate uridyltransferase deficiency -> accumulation of toxic substances (eg, galactitol in eyes)

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14
Q

Cataracts, retinopathy, peripheral neuropathy in DM

A

Lens, retina, Schwann cells lack sorbitol dehydrogenase -> intracellular sorbitol accumulation -> osmotic damage

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15
Q

Type I hypersensitivity

A

Immediate (minutes): antigen cross links IgE on mast cells Ž-> degranulation Ž-> release of histamine and tryptase
Late (hours): mast cells secrete chemokines (attract eosinophils) and leukotrienes Ž-> inflammation, tissue damage

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16
Q

Type II hypersensitivity

A

Antibodies bind to cell-surface antigens -> cellular destruction, inflammation, cellular dysfunction

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17
Q

Type III hypersensitivity

A

Antigen-antibody complexes Ž-> activate complement Ž-> attracts neutrophils

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18
Q

Type IV hypersensitivity

A

T cell-mediated (no antibodies involved). CD8 + directly kills target cells, CD4 + releases cytokines

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19
Q

DiGeorge syndrome

A

22q11 microdeletion Ž-> failure to develop 3rd and 4th branchial (pharyngeal) pouches

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20
Q

Tetanus

A

Tetanospasmin prevents release of inhibitory neurotransmitters (GABA and glycine) from Renshaw cells

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21
Q

Botulism

A

Toxin (protease) cleaves SNARE -> low neurotransmitter (ACh) release at NMJ

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22
Q

Gas gangrene

A

Alpha toxin (phospholipase/lecithinase) degrades phospholipids -> myonecrosis

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23
Q

Toxic shock syndrome, scarlet fever

A

TSST-1 and erythrogenic exotoxin A (scarlet) cross-link β region of TCR to MHC class II on APCs outside of antigen binding site Ž-> IL-1, IL-2, IFN-γ, TNF-α

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24
Q

Shock and DIC by gram ⊝ bacteria

A

Lipid A of LPS Ž-> macrophage activation (TLR4/CD14), complement activation, tissue factor activation

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25
Q

Diphtheria

A

Exotoxin inhibits protein synthesis via ADP-ribosylation of EF-2

26
Q

Virulence of M tuberculosis

A

Cord factor activates macrophages (promoting granuloma formation), induces release of TNF-α; sulfatides (surface glycolipids) inhibit phagolysosomal fusion

27
Q

Tuberculoid leprosy

A

Th1 immune response Ž-> mild

28
Q

Influenza pandemics

A

RNA segment reassortment Ž-> antigenic shift

29
Q

Influenza epidemics

A

Mutations in hemagglutinin, neuraminidase -> antigenic drift

30
Q

CNS invasion by rabies

A

Binds to ACh receptors Ž-> retrograde transport (dynein)

31
Q

HIV infection

A

Virus binds CD4 along with CCR5 on macrophages (early), or CXCR4 on T cells (late)

32
Q

Granuloma

A

Macrophages present antigens to CD4 + and secrete IL-12 Ž-> CD4+ differentiation into Th1 which secrete IFN-㠎-> macrophage activation

33
Q

Tissue invasion by cancer

A

Low E-cadherin function Ž -> low intercellular junctions Ž-> basement membrane and ECM degradation by metalloproteinases Ž-> cell attachment to ECM proteins (laminin, fibronectin) Ž locomotion Ž-> vascular dissemination

34
Q

Persistent truncus arteriosus

A

Failure of aorticopulmonary septum formation

35
Q

D-transposition of great arteries

A

Failure of the aorticopulmonary septum to spiral

36
Q

Atherosclerosis

A

Endothelial cell dysfunction -> macrophage and LDL accumulation -> foam cell formation Ž-> fatty streaks -> smooth muscle cell migration, extracellular matrix deposition Ž fibrous plaque Ž-> complex atheromas

37
Q

Thoracic aortic aneurysm

A

Cystic medial degeneration

38
Q

Myocardial infarction

A

Rupture of coronary artery atherosclerotic plaque -> acute thrombosis

39
Q

Non–ST-segment elevation MI

A

Subendocardial infarcts (subendocardium vulnerable to ischemia)

40
Q

ST-segment elevation MI

A

Transmural infarcts

41
Q

Death within 0-24 hours post MI

A

Ventricular arrhythmia

42
Q

Death or shock within 3-14 days post MI

A

Macrophage-mediated ruptures: papillary muscle (2-7 days), interventricular septum (3-5 days), free wall (5-14 days)

43
Q

Wolff-Parkinson-White

A

Abnormal accessory pathway from atria to ventricle bypasses the AV node Ž-> ventricles begin to partially depolarize earlier Ž-> delta wave. Reentrant circuit Ž-> supraventricular tachycardia.

44
Q

Hypertrophic obstructive cardiomyopathy

A

Sarcomeric proteins gene mutations (myosin binding protein C and β-myosin heavy chain) Ž-> concentric hypertrophy (sarcomeres added in parallel). Death due to arrhythmia

45
Q

Hypovolemic shock

A

Low preload -> low CO

46
Q

Cardiogenic shock

A

Low CO due to left heart dysfunction

47
Q

Distributive shock

A

Low SVR (afterload)

48
Q

Rheumatic fever

A

Antibodies against M protein cross react with self antigens; type II HSR

49
Q

Most common form of congenital adrenal hyperplasia

A

21-hydroxylase deficiencyŽ -> low mineralocorticoids, low cortisol, high sex hormones, high 17-hydroxyprogesterone

50
Q

Heat intolerance, weight loss in hyperthyroidism

A

High Na+-K +ATPase -> high basal metabolic rate -> high calorigenesis

51
Q

Myxedema in hypothyroidism

A

High CAGs in interstitial space

52
Q

Graves ophthalmopathy

A

Lymphocytic infiltration, fibroblast secretion of GAGs -> high osmotic muscle swelling, inflammation

53
Q

1° hyperparathyroidism

A

Parathyroid adenoma or hyperplasia -> high PTH

54
Q

2° hyperparathyroidism

A

High Ca 2+ and/or PO4 3– -> parathyroid hyperplasia -> high PTH, high ALP

55
Q

Euvolemic hyponatremia in SIADH

A

High ADH Ž-> water retention -> low aldosterone,  high ANB, high BNP Ž -> high urinary Na+ secretion

56
Q

Small/large vessel disease in DM

A

Nonenzymatic glycation of proteins

57
Q

Diabetic ketoacidosis

A

Low Insulin or high insulin requirement -> high fat breakdown -> high free fatty acids -> high ketogenesis

58
Q

Hyperosmolar hyperglycemic state

A

Hyperglycemia -> high serum osmolality, excessive osmotic diuresis

59
Q

Zollinger-Ellison syndrome

A

Gastrin-secreting tumor (gastrinoma) of pancreas or duodenum Ž-> recurrent ulcers in duodenum/jejunum and malabsorption

60
Q

Duodenal atresia

A

Failure to recanalize

61
Q

Jejunal/ileal atresia

A

Disruption of SMA Ž-> ischemic necrosis of fetal intestine

FA (3 decks)

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