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Year 5 Pathology > Chemical Pathology > Flashcards

Chemical Pathology Flashcards

1
Q

Intracellular anions

A

Protein and Phosphate

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2
Q

Extracellular anions

A

Cl and HCO3

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3
Q

Formula for calculated plasma osmolarity

A

2(Na+K) + urea + glucose

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4
Q

Formula for osmolar gap

A

Measured osmolarity-calculated osmolarity

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5
Q

Anion gap formula

A

Na + K -Cl -HCO3

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6
Q

Causes hypernatremia

A

Insufficient intake

Water loss relative to Na loss: DI, osmotic diuresis, primary aldosteronism

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7
Q

Causes hypokalemia

A

Cellular uptake: insulin, alkalosis

Increased loss: D&V, fistulae, increased mineralocorts, diuretics, RTA 1 and 2

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8
Q

Causes hyperkalemia

A

Cellular loss: acidosis, severe hemolysis/rhabdomyolysis

Decreased loss: Renal failure, decreased mineralocorts (RTA 4), K+-sparing diuretics

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9
Q

Treatment hyperkalemia

A

Stabilize myocardium with 10mL 10% calcium gluconate
Drive K into cells: salbutamol, insulin +50mL 50% dextrose
Mop up K: calcium resonium, hemofiltration

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10
Q

Causes hypocalcemia

A

Absence parathyroids (parathyroidectomy, DiGeorge), Vit D defic, renal disease

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11
Q

Causes hypercalcemia

A

Primary hyperparathyroidism, myeloma, bony mets, PTHrp, granulomatous disease, vit D intoxication, diuretics, tertiary hyperparathyroidism, milk-alkali syndrome

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12
Q

Sxs hypercalcemia

A

Bones (osteitis fibrosa cystica), stones, moans (fatigue, confusion), and groans (vomiting, constipation, pain)

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13
Q

Normal GFR

A

60-120 mL/min

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14
Q

Causes of white cell casts in urine

A

Pyelonephritis

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15
Q

Causes of red cell casts in urine

A

Glomerulonephritis, severe tubular damage

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16
Q

Calcium oxalate stones

A

75%.
Radio-opaque.
Metabolic/idiopathic

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17
Q

Triple phosphate stones

A

17%
Radio-opaque
May form staghorn calciuli–PROTEUS MIRABILIS

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18
Q

Uric acid stones

A

5%
Radio-lucent
Hyperuricemia (gout, Lesch-Nyhan)

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19
Q

Cysteine stones

A

1%
Semi-opaque
Renal tubular defects, cystinuria

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20
Q

Gout

  • Type crystals
  • Presentation
  • Tx for acute and chronic
A

M>F
Monosodium urate crystals: negatively birefringent
Exquisite pain
Red, hot, swollen joint
1st MTP or big toe (podagra) classic
NSAIDs for acute tx; allopurinol or chronic. Colchicine lowers urate levels

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21
Q

Pseudogout

A

Pyrophosphate crystals-positively birefringent

Self-limiting: 1-3 weeks

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22
Q

Dx-Cushings syndrome

A

Midnight plasma cortisol
Low dose DEXA test
Salivary cortisol
Urinary free cortisol

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23
Q

Conn’s syndrome

A

“Hyperfunction of aldosterone-secreting cells#. Increased aldosterone, decreased renin

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24
Q

Dx-Addison’s

A

Short synacthen test

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25
Q

When does CRP peak?

A

48 hrs

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26
Q

Function ceruloplasmin

A

Mops up superoxide radicals

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27
Q

Ferritin increased in which conditions

A

Fe overload

Acute inflammation

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28
Q

Test for B1 deficiency

A

RBC transketolase

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29
Q

Test for B2 deficiency

A

RBC glutathione reductase

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30
Q

Test for B6 deficiency

A

RBC AST activation

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31
Q

Reactive hypoglycemia/Post-prandial

A 
Hypo following food intake
Post-gastric bypass
Hereditary fructose intolerance
Early diabetes
In insulin-sensitive individuals after exercise or large meal
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32
Q

Factitious hypoglycemia

A

Decreased glucose, increased insulin without increased C-peptide

Think of those with access to insulin…often nurses on exam questions

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33
Q

Sulfonylurea’s effect on glucose

A

Causes increased insulin production therefore lowers glucose

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34
Q

Essential amino acids

A 
"PVT M.T. HILL"
Phenylalanine
Valine
Threonin
Methionine
Tryptophan
Histidine
Isoleucine
Leucine
Lysine
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35
Q

Bariatric surgery procedures

A

Banding
Sleeve gastrectomy
Roux-en-Y (gold standard)

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36
Q

Marasmus

A

Caloric malnutrition

Severe muscle wasting, no s/c fat, growth retardation

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37
Q

Kwashiorkor

A 
PROTEIN malnutrition
Edematous
Scaling/ulceration
Lethargy
Large liver, s/c fat
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38
Q

Anterior pituitary hormones

A 
LH
FSH
GH
ACTH
TSH
PRL
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39
Q

Posterior pituitary hormones

A

Stored only

Oxytocin
ADH

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40
Q

CPFT triple test

A

Hypoglycemia should increase CRF and thus ACTH, GHRH and GH
TRH stimulates TSH and PRL
LHRH stimulates LH and FSH

If pituitary failure, failure for GH, cortisol, LH, FSH to respond.
Urgently needs hydrocortisone
Also needs thyroxine, estrogen and GH replacement

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41
Q

Tx for PRLoma

A

Da agonist e.g. bromocriptine or cabergoline

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42
Q

Dx Acromegaly

A

OGTT

Glucose should decrease GH but stays high if acromeg

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43
Q

Renal osteodystrophy

A

All skeletal changes associated with chronic renal disease

  • increased bone resorption (osteitis fibrosa cystica)
  • Osteomalacia
  • Osteosclerosis (can cause deafness or pain by pinching nerves)
  • Growth retardation
  • Osteoporosis
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44
Q

Buffers of H+

A

HCO3-/H2CO3
Hb-/HHb
HPO4-/H2PO4

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45
Q

Location in kidney where bicarb (HCO3) is reabsorbed

A

Proximal tubule

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46
Q

Causes metabolic acidosis

A 
Increased H+ production (e.g. DKA)
Decreased H+ excretion (e.g. renal tubular acidosis)
Bicarb loss (e.g. intestinal fistula)
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47
Q

Causes metabolic acidosis with increased anion gap

A 
MUD PILES
Methanol
Uremia
DKA
Propylene glycol
Iron/INH
Lactic acidosis
Ethylene glycol
Salicylates
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48
Q

Metabolic Alkalosis Causes

A

H+ loss (e.g. pyloric stenosis)
Hypokalemia (H+/K+ exchangers)
HCO3 ingestion

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49
Q

Normal serum concentration K+

A

3.5-5mmol/L

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50
Q

First ECG sign seen with hyperkalemia

A

Symmetrical peaked/tented T waves (“Eiffel Tower t waves)

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51
Q

ADH receptors

A

V2 in renal tubular cells (aquaporin channels)

V1 on vascular smooth muscle (vasoconstriction)

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52
Q

Tx hypokalemia

A

If 3-3.5: oral KCl (2 sando-K tablets tds for 48hrs)

If

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53
Q

Signs hypovolemia

A

tachycardia, postural hypotension, dry mucous membranes, reduced skin turgor, confusion/drowsiness, reduced urine output

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54
Q

Clinical signs hypervolemia

A

Increased JVP
Bibasal crackles
Peripheral edema

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55
Q

Causes hypovolemic hyponatremia

A

Diarrhea
Vomiting
Diuretics

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56
Q

Causes euvolemic hyponatremia

A

Hypothyroidism
Adrenal insufficiency
SIADH

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57
Q

Causes hypervolemic hyponatremia

A

Cardiac failure
Cirrhosis
Nephrotic syndrome

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58
Q

Causes SIADH

A

CNS pathology
Lung pathology
Drugs: SSRIs, TCAs, opiates, PPIs, carbamaz
Tumors

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59
Q

Dx-SIADH

A

No hypovolemia, hypothyroidism, adrenal insufficiency

Reduced plasma osmolality and increased urine osmolality

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60
Q

Na correction

A

Do not correct more than 12mmol/L in first 24 hours–risk central pontine myelinolysis

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61
Q

Central pontine myelinolysis

A

Quadriplegia, pseudobulbar palsy, seizures, coma, death

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62
Q

Tx-SIADH

A

Water restriction
Demeclocycline (decreases collecting tubule responsiveness to ADH)
Tolvaptan (V2 antag)

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63
Q

PTH-mechanism for increasing calcium

A

Kidneys: increases Ca reabsorption, upregulates 1-alpha-hydroxylase
Intestine: increases Ca absorption
Bone: increases bone resorption

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64
Q

Causes of high calcium and low PTH

A

Malignancy
Sarcoid
Thyrotoxicosis
Milk alkali syndrome

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65
Q

Causes of high calcium and high or inappropriately normal PTH

A

Primary hyperparathyroidism

Familial hypocalciuric hypercalcemia (rare)

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66
Q

Primary hyperparathyroidism

A

Parathyroid adenoma/hypoplasia/carcinoma

Associated with MEN I

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67
Q

Hypercalcemia in malignancy-causes

A

Humoral calcemia of malignancy (SCC lung secretes PTHrp)
Bone mets
Hematological malignancy (e.g. myeloma)

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68
Q

Hypocalcemia causes-NON PTH driven

A 
Vit D deficiency
CKD
PTH resistance (pseudohypoparathyroidism)
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69
Q

Causes hypocalcemia due to low PTH

A

Surgical removal parathyroids
AI hypoparathyroidism
Congenital e.g. DiGeorge
Mg deficiency

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70
Q

T score in osteoporosis

A
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71
Q

T score in osteopenia

A

-1.5 to -2.5

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72
Q

Causes osteoporosis

A

Failure to attain peak bone mass
Early menopause
Bone loss during adulthood: lifestyle, endocrine (hyper-PRLemia, thyrotox, Cushings)
Steroids

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73
Q

Tx-osteoporosis

A

Lifestyle: stop smoking and drinking, weight bearing exercise
Drugs: Vit D/Ca, bisphosphonates, teriparatide, strontium, SERM (raloxifene)

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74
Q

Clinical features osteomalacia

A

Bone and muscle pain
Increased fracture risk
Low Ca and PO4, raised ALP
Looser’s zones (pseudofractures)

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75
Q

Clinical features rickets

A

Bowed legs
Costochondral swelling
Widened epiphysis at wrists
Myopathy

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76
Q

Paget’s disease

A

Disorder of bone remodeling
Focal pain, warmth, deformity, #, SC compression, malig, high output cardiac failure

Increased ALP
Tx with bisphosphonates

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77
Q

Renal osteodystrophy

A

Due to secondary hyperparathyroidism and retention of aluminum from dialysis fluid

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78
Q

Which two types renal stones are radiolucent?

A

Uric acid

Cysteine

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79
Q

Albumin

A

Maintains oncotic pressure, source of amino acids, acts as buffer, binds ligands
Decreased in acute inflamm response, liver failure, nephrotic syndrome

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80
Q

Alpha-1-antitrypsin

A

Degrades elastase

Deficiency causes tissue degradation (liver, lung)

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81
Q

haptoglobin

A

Mops up free Hb.

Thus decreased in intravascular hemolytic anemias

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82
Q

Ceruloplasmin

A

Carries copper

Decreased in Wilsons

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83
Q

Causes increased CSF

A

Trauma, infection (MENINGITIS), spinal block

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84
Q

Causes transudate effusions

A

Decrease in oncotic pressure:

CCF, liver failure, hypoalbuminemia, peritoneal dialysis

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85
Q

Causes exudate effusions

A 
Malignancy
PE
RA/SLE
TB
Hemothorax
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86
Q

AFP as tumor marker

A

HCC

Testicular cancer

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87
Q

Tx-hypoglycemia

A

Alert and orientated: lucozade, sandwich
Drowsy/confused but swallow intact: buccal glucose
Unconsc or unsafe swallow: IV 50mL 50% gluc or 100mL 20% gluc

88
Q

Causes hypoglycemia

A 
Diabetes
Fasting/reactive
BOOZE
Organ failure
Insulinoma
Post-gastric bypass
Drugs
Extreme weight loss
Factitious
89
Q

Neonatal hypoglycemia

A

Premature
Infant diabetic mother
IUGR/SGA
Inborn errors metabolism

90
Q

Persistent neonatal hypoglycemia, raised FFA, normal ketones

A

FA oxidation defects
MCADD
GSD type 1 (von Gierke’s)
HMG CoA lysase deficiency

91
Q

Inborn errors metabolism with heptaomegaly

A

Galactosemia
Fructose-1,6-phosphatase deficiency
GSD 1, 3, or 6

92
Q

Prader-Willi

A

Maternal imprinting; paternal gene deleted/mutated.

93
Q

Angelman Syndrome

A

Paternal imprinting; maternal gene deleted/mutated.

“Happy puppet syndrome”: inappropriate laughter, seizures, ataxia, severe intellectual disability

94
Q

Hypophosphatemic rickets

A

X-dominant.

Increased PO4 wasting at proximal tubule

95
Q

Mitochondrial myopathies

A

Rare
Myopathy, lactic acidosis, CNS disease.
Ragged red fibers

96
Q

FAP

A

Mutation in APC gene on chromo 5

97
Q

Hereditary hemorrhagic telangiectasia

A

Aka Osler-Weber-Rendu

Telangiectasias, recurrent epistaxis, skin discolorations, AVMs

98
Q

NF1

A

Cafe-au-lait spots, cutaneous neurofibromas

99
Q

NF2

A

Bilateral acoustic schwannomas, juvenile cataracts, meningioas, ependymomas

100
Q

Tuberous Sclerosis

A

Multiorgan system involvement

Benign hamartomas

101
Q

Lab findings in Duchennes

A

Increased CPK and aldolase

102
Q

Myotonic type I dystrophy

A

CTG trinucleotide repeat in DMPK gene.

Myotonia, muscle wasting, frontal balding, cataracts, testicular atrophy, arrhythmias

103
Q

Dystrophin

A

Anchors muscle fibers, especially skeletal and cardiac (note that DCM is most common cause death in muscular dystrophy)
Loss of dystrophin causes myonecrosis

104
Q

Tri-nucleotide repeat disorders

A

Huntingtons
Freidrich ataxia
Myotonic dystrophy
Fragile X

105
Q

Down’s: quad screen

A

Decreased: AFP, estriol
Increased: inhibin A, hCG

106
Q

Decreased PAPP-A

A

Downs
Edwards
Patau

107
Q

Vit B complex deficiencies-typical symptoms

A

Dermatitis
Glossitis
Dementia

108
Q

B1

A

Thiamine, a component of TPP

109
Q

Thiamine pyrophosphate (TPP)

A

In pyruvate DH (links glycolysis to TCA cycle)
alpha-ketoglutarate DH (TCA cycle)
Transketolase (HMP shunt)
Branched chain ketoacid DH

110
Q

Thiamine deficiency

A

Impaired glucose breakdown causing ATP depletion worsened by glucose infusion. Highly aerobic tissues (brain, heart) affected first.
Beriberi or Wernicke’s

111
Q

Wet beriberi symptoms

A

High output HF (DCM), edema

112
Q

Dry beriberi symptoms

A

Polyneuritis, symmetrical muscle wasting

113
Q

B2

A

Riboflavin. Components of FAD, FMN–cofactors in redox reactions, e.g. succinate DH

114
Q

B2 deficiency

A

Cheilosis, corneal vascularization

115
Q

B3

A

Niacin. Part of NAD+, NADP+ (in redox rxns)

*Synth requires B2, B6

116
Q

B3 deficiency

A

Glossitis. Pellagra when severe.

117
Q

Pellagra symptoms

A

Diarrhea
Dermatitis
Dementia

118
Q

Causes of pellagra

A

Hartnup disease (decreased tryptophan)
Malignant carcinoid syndrome
INH (decreases B6 which is required for B3 synth)

119
Q

B5

A

Pantothenate. Part of CoA and fatty acid synthase

Deficinecy: dermatitis, enteritis, alopecia, adrenal insufficiency

120
Q

B6

A

=Pyridoxine. Part of pyridoxal phosphate (cofactorin transamination e.g. ALT, AST), carbox reactions, glycogen phosphorylase
Synthesis of cystathionine, heme, niacin, histamine, NTs (5HT, E, NE, Da, GABA)

121
Q

B6 deficiency

A

Convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemias (since no heme production)

122
Q

B7

A

Biotin
Cofcator for carbox enzymes
Deficiency rare (dermatits, enteritis, alopecia)

123
Q

B9

A

Folic acid

Converted to THF. Important for synth nitrogenous bases, e.g. in RNA, DNA

124
Q

B9 deficiency

A

Macrocytic, megalobastic anemia, glossitis
Increased homocysteine, normal methylmalonic acid
Seen in alcoholism, pregnancy, drugs (phenytoin, sulfonamides, MTX)

125
Q

B12

A

Cobalamin

Cofactor for homocyteine methyltransferase, methylmalonyl CoA

126
Q

B12 deficiency

A

Caused by strict veganism, malabsorption (sprue, enteritis, Diphyllobothrium latum–fish tapeworm), lack intrinsic factor (pernicious anemia, gastric bypass), absnece terminal ileum (Crohn’s)

127
Q

Vit C

A

Fe3+ –> Fe2+
Hydroxylation proline, lysine
In beta hydroxylase (converts Da to NE)

128
Q

D3

A

Cholecalciferol

Milk, sun

129
Q

D2

A

Ergocalciferol

Plants

130
Q

Vit E

A

Protects RBC from free radical damage

131
Q

Vit E deficiency

A

Hemolytic anemias
Acanthocytosis
Muscle weakness
Posterior column and spinocerebellar tract demyelination

132
Q

Essential fructosuria

A

AR defect in fructokinase
Fructose in urine and blood
Asymptomatic and benign

133
Q

Fructose intolerance

A

AR. Deficiency aldolase B
Fructose-1-P accumulates and decreases PO4 which halts glycogenolysis and gluconeogenesis
Symptoms following ingestion fruit, juice, or honey
Symptoms: hypoglycemia, jaundice, cirrhosis, vomiting

134
Q

Galactokinase deficiency

A

Deficiency galactokinase
AR
Galacitol accumulates
Sxs: galactose in blood, urine. Infantile cataracts. May initially present as failure to track objects or develop social smile

135
Q

Classic galactosemia

A

AR deficiency galactose-1-P-uridyltransferase

Sxs: FTT, jaundice, hepatomegaly, infantile cataracts, intellectual disability

136
Q

Cystinuria

A

AR defect renal tubular transporters for cysteine, ornithine, lysine, arginine (COLA).
XS cystine in urine can precipitate cystine stones.
Tx: urinary alkalinization (K citrate, acetazolamide)

137
Q

Homocystinuria

A

AR defects often affecting cystathionine synthase.
XS homocysteine.
Intell disability, osteoporosis, tall stature, lens subluxation, thrombosis, atherosclerosis

138
Q

Type I glycogen storage disease

A

Von Gierke’s
AR. Deficient glucose-6-phosphatase.
Loads glycogen in liver (hepatomegaly), increased blood lactate

139
Q

Type II glycogen storage disease

A

Pompe’s,
AR deficiency in lysosomal-alpha-1,4-glucosidase (acid maltase)
HEART (cardiomyopathy), liver, muscle.

140
Q

Type III glycogen storage disease

A

Cori disease.
No debranching enzyme (alpha-1,6-glucosidase)
Milder version of von Gierke’s but no increase in lactate

141
Q

Type V glycogen storage disease

A

McArdle’s
Increased glycogen in muscle–can’t break down due to lack skeletal muscle glycogen phosphorylase (myophosphorylase)
Also have painful muscle cramps, myoglobinuira after intense exercise, arrhythmias

142
Q

Purines

A

Adenosine
Guanosine
Inosine

143
Q

Urate

A

Final product of purine breakdown

Circulates in blood at level close to its solubility

144
Q

Renal urate handling

A

90% reabsorbed

10% excreted

145
Q

Rate limiting step (and enzyne) in de novo purine synthesis

A

PRPP to 5-phhosphoribosyl-1 amine

Enzyne: phosphoribosylamidotransferase, with ppat

146
Q

Salvage pathway purine synthesis

A

Faster method

Hypoxanthine converted (via HGPRT) to INP
Guanine converted (via HGPRT) to GNP
147
Q

Lesch Nyhan

A

Deficiency in HGPRT (“He’s Got Purine Recovery Trouble”)
Devel delay by 6/12
Choreiform movements (basal ganglia)
Spasticity
Self-mutilation (85%), esp lip and finger biting
Hyperuricemia/gout
X linked

148
Q

Causes increased urate production (primary)

A 
Lesch-Nyhan
Partial HGRPT deficiency
Glycogen storage diseases
Fructose intolerance
PRPP synthetase overactivity
149
Q

Causes increased urate production (secondary)

A

Myeloproliferative disorders
Lymphoproliferative disorders
Chronic hemolytic anemia
Severe psoriasis

150
Q

Causes decreased urate excretion

A

CKD
Down’s syndrome
Pb poisoning
Aspirin

151
Q

Gout

A

Monosodium urate crystals

Negatively birefringent crystals (yellow when parallel, blue when perpendicular)

152
Q

Pseudogout

A 
Calcium pyrophosphate crystals
Positively birefringent (blue when parallel, yellow when perpendicular)
153
Q

Acute gout

A

Exquisite pain
Affected joint is hot, swollen, tender
1st MTP joint is first site in 50%–involved in 90% overall

Tx with NSAIDs, colchicine, glucocorticoids

154
Q

Chronic gout (tophaceous)

A

Not that painful

Allopurinol
Drink plenty water
Slow down on the vodka
Probenecid

155
Q

Schmidt’s syndrome

A

Addison’s disease AND primary hypothyroidism

156
Q

Test for Addison’s

A

Short synacthen test

157
Q

Cholesterol transport in fasting plasma

A

VLDL: 13%
LDL: 70%
HDL: 17%

158
Q

Dyslipidemia

A

Hypercholesterolemia
Hypertriglyceridemia
Mixed hypolipidemia
Hypolipidemia

159
Q

Primary hypercholesterolemia type II

A

AD mutation LDL receptor, apoB, or PCSK9 genes.

160
Q

Polygenic hypercholesterolemia

A

Multiple loci incl NP1L1, HMGCR, CYPA1 polymorphisms

161
Q

Familial hyperaalphalipoproteinemia

A

Some cases associated with CETP deficiency

162
Q

Phytosterolemia

A

Mutations ABC G5 and G8 (genes that prevent absorption plant sterols…atherosclerosis occurs earlier when mutations are present)

163
Q

PCSK9

A

Bind LDL receptor and promote its degradation

Gain-of-fn mutations can cause familial hypercholesterolemia
Loss-of-fn mutations associated with low LDL levels

164
Q

Primary hypertriglyceridemia, Familial type I

A

Lipoprotein lipase or apoC II deficiency

165
Q

Primary hypertriglyceridemia, Familial type IV

A

Increased synthesis TG

166
Q

Primary hypertriglyceridemia, Familial type V

A

Sometimes due to apoA V deficiency

167
Q

CVD risk with lipid levels

A

Inversely related to HDL levels; directly related to LDL levels

168
Q

Statins

A

Best at decreasing LDL. Slight decrease in TGs and slight increase in HDL

169
Q

Nicotinic acid

A

Can’t really get this any more

170
Q

Fibrates, e.g. gemfibrozil

A

Not very good at decreasing LDL

Very good at decreasing TGs and decent at increasing HDL

171
Q

Ezetimibe

A

Blocks cholesterol absorption

Decrease in LDL levels

172
Q

Cholestyramine

A

Bile acid binding resin

Decrease in LDL

173
Q

Orlistat

A

Inhibits pancreatic lipase

Steatorrhea

174
Q

Difference between serum osmolality and serum osmolarity

A

Osmolality: mOsm/kg
Osmolarity: mOsm/L

Often incorrectly used in medical literature.
By the bedside addition of Na, K etc is osmolarity.
Lab tends to use osmolality.
However, there are complex equations to convert between two

175
Q

Controls uptake of iodide into thyroid

A

TSH

176
Q

Blocks uptake of iodide into thyroid

A

Perchlorate

177
Q

Thionamides

A

Block iodination of tyrosine residues

E.g. carbimazole, propylthiouracil

178
Q

Thyroid peroxidase

A

Converts iodide into iodine

179
Q

Thyroglobulin

A

Converts iodine to thyroxine

180
Q

Active thyroid hormone

A

T3

181
Q

Drugs that can cause hypothyroidism

A

Amiodarone

Lithium

182
Q

Subclinical hypothyroidism

A

Compensated.
Increased TSH, normal T4
Associated with hypercholesterolemia

183
Q

Pregnancy’s affect on thyroid

A

hCG resembles TSH so can become hyperthyroid

NORMALLY, TSH decreases slightly and T4 increases, but with increased TGB, therefore euthyroid

184
Q

Sick euthyroid

A 
Alteration in pituitary-thyroid axis in non-thyroidal illness
Can be any severe illness.  
Low T4 when severe, 
High normal TSH, later decreased
Low T3 and reduced T3 action
185
Q

Causes hyperthyroidism

A

Graves (40-60%)
Toxic multinodular goiter (30-50%)
Single toxic adenoma (5%)

186
Q

High uptake on technetium scan

A

Graves
Toxic multinodular goiter
Single toxic adenoma

187
Q

Low uptake on technetium scan

A

Subacute thyroiditis

Post-partum thyroiditis

188
Q

Papillary thyroid carcinoma

A

Most common type of thyroid cancer (80%)
RFs: exposure to ionizing radiation in childhood
Orphan Annie nuclei, psammoma bodies
Great prognosis

189
Q

Follicular thyroid carcinoma

A

Surrounded by fibrous capsule
Mets hematogenously spread (NB most carcinomas spread via lymphatics; this one is an exception)
Must differentiate from follicular adenoma (spread through capsule)

190
Q

Medullary thyroid carcinoma

A

Prolif parafollicular C cells (thus, may get increased calcitonin thus hypocalcemia)
5% thyroid carcinomas

Familial causes due to MEN syndrome (MEN 2A and 2B). Note both MEN 2A and 2B associated with RET oncogene

191
Q

Anaplastic carcinoma

A

Rock hard thyroid + elderly
Often invades local structures, causing dysphagia or resp compromise
Poor prognosis

192
Q

Subacute (de Quervain’s) thyroiditis

A

Follows viral infection
Tender thyroid with transient hyperthyroidism
Self-limiting. 15% may progress to hypothyroidism

193
Q

Riedel fibrosing thyroiditis

A

Chronic inflamm with extensive fibrosis of thyroid
Presents as hypothyroidism with “hard as wood” nontender thyroid
Clinically mimics anaplastic carcinoma, but pts younger (40s) and no malignant cells

194
Q

Hashimotos

A

AI destruction thyroids
HLA-DR5
MCC hypothyroidism in areas where iodine sufficient
Initially may present as hyperthyroidism (follicles damaged)
Anti-thyroglobulin and antithyroid antibodies
Increased risk B-cell (marginal zone) lymphoma

195
Q

Multinodular goiter

A

Enlarged thyroid with multiple nodules
Relative iodine deficiency
Usually non-toxic (euthyroid)
Rarely, can have regions that become TSH-independent….toxic goiter

196
Q

Cretinism

A

Hypothyroidism in neonates and infants
Mental retardation, short stature with skeletal abnormalities, coarse facial features, enlarged tongue, umbilical hernia.

Causes: 
Maternal hypothyroidism in early pregnancy
Thyroid agenesis
Dyshormonogenic goiter
Iodine deficiency

Guthrie test (heell prick)

197
Q

The actual definition of myxedema

A

Accumulation of glycosaminoglycans in skin and soft tissue. Results in deepening of voice and large tongue

Seen in hypothyroidism, pretibial myxedema in hyperthyroidism

198
Q

Common problems in low birth weight babies

A 
RDS
Retinopathy of prematurity
Interventricular hemorrhage
PDA
Necrotizing enterocolitis
199
Q

Nephron embryology (basics)

A

Nephrons start developing from week 6
Start producing urine from week 10

Functional maturity GFR not reached until about 2 years age

200
Q

Why are young kids’ kidneys less able to compensate for problems?

A

Lower reabsorption capabilities (shorter prox tubule)
Slow excretion solute load
Limited amt Na available for H+ exchange
Reduced concentrating ability
Distal tubule relatively unresponsive to aldosterone

201
Q

Hyponatremia in young children

A 
Rare
CAH (21 hydroxylase deficiency)
202
Q

Causes prolonged neonatal jaundice

A 
Prenatal infection/sepsis/hepatitis
Hypothyroidism
Breast milk jaundice
hemolytic disease
G6PD defic
Crigler-Najjar
Biliary atresia, choledoeal cyst
203
Q

Toxicology

A

Analyzing samples for drugs/poisons and interpreting the significance

204
Q

Forensics

A

Reports/results used in court

205
Q

Coroner’s toxicology

A 
(Section 3 Coroner's Act)
Report following deaths to coroner:
1. Violent
2. Unnatural or sudden
3. Cause of death unknown
206
Q

How does cocaine kill you?

A

Arrhythmias, acute HF, MI, coronary vasospasm

207
Q

How do amphetamines kill you?

A

Direct toxic effect on the heart

Also cause hyperthermia, which causes rhabdomyolysis, which causes renal failure

208
Q

Hair for toxicology reports

A

Blood/serum-drugs typically can’t be detected past 12 hrs
Drugs incorporated into hair from blood stream during growth phase
Hair grows about 1cm/mo = tape-recording of drug use
Use gas-chromatography/mass spec

209
Q

Porphyria

A

Problem in heme synthesis

Often get funny colored urine and cutaneous symptoms

210
Q

Acute porphyrias

A

AIP
Hereditary coproporphyria
Variegate porphyria

All AD
Only AIP does not have skin lesions

211
Q

Acute Intermittent Porphyria (AIP)

A

Defective HMB synthase (PBG deaminase)

Abdo pain and vomiting, tachycardia, HTN, seizures, psychosis

212
Q

Hereditary coprophyria

A

Defective coporphyrinogen oxidase
AD
Skin lesions

213
Q

Variegate porphyria

A

Defective protoporphyrinogen oxidase
AD
Skin lesions

214
Q

Non-acute porphyrias

A

Porphyria cutanea tarda (PCT)
Erythropoietic protoporphyria
Congenital erythropoietic porphyria

215
Q

Porphyria cutanea tarda

A

Defective uroporpyrinogen decarboxylase

Skin lesions after sun exposure

216
Q

Erythropoietc protoporphyria

A

Defective ferrochelatase

Skin lesions after sun exposure

217
Q

Congenital erythropoietic porphyria

A

Defective uroporphyrinogen III synthase

Skin lesions after sun exposure

Year 5 Pathology (6 decks)

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