Chemical Pathology Flashcards

1
Q

what is the enzyme missing in lesch nyhan

A

HGPRT

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2
Q

How can one categorise the causes of a raised urate (in gout)

A

Increased production and decreased clearance

P: myeloproliferative, lymphoproliferative, chronic HA

C: drugs(aspirin and thiazides, lead) CKD or barterrs, downs syndrome.

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3
Q

what is high CRP a risk factor for

A

cardio problems

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4
Q

what can be broken down to make amino acids

A

albumin

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5
Q

high fluid intake as a baby can be a risk factor for what

A

NEC

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6
Q

What is the difference between osmolality and osmolarity

A

LAL is in kg
LAR is in litres

they are very similar but the difference is known as the osmolar gap.

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7
Q

how do you calculate the osmolarity

A

2(sodium + potassium) + urea + glucose

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8
Q

normal osmolarity? what does it help diagnose

A

serum = 275-295 it is used to diagnose SIADH

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9
Q

At what point should you treat the hyponatraemia rather than the underlying cause?

A

when drops below 125.

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10
Q

What hapens when sodium falls?

A

N+v - 136
confusion - 131
seizures - pulmonary odema (non cardio) - 125
coma - 117

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11
Q

What is TURP syndrome

A

water is absorbed through damaged prostate and causes hypoonatraemia

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12
Q

How do you differentiate true hyponatraemia from other causes?

A

osmolality.

HIGH - glucose/mantiol or infusion
NORMAL - spurious, drip arm sample, paraproteinaemia/hyperlipidaemia

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13
Q

how do you diagnose Adrenal insufficiency

A

ADDISONS DISEASE - 85%(but not so in the rest of the world) (automimmune)
true hyponatraemia with euvolemia and therefore high urinary sodium (>20)
HIGH POTASSIUM

other causes of adrenal insufficiency include:
TB and other infections
anything interfering with hypothamic axis to prevent release of CRH

SHORT SYNACTHen test to diagnose. there will be no rise in cortisol seen

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14
Q

How do you diagnose SIADH

A

urine osmolarity is high but serum is low as it is a TRUE hyponatraemia
it is a diagnosis of exclusion

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15
Q

4 causes of SIADH

A

brain insult
lung pathology
malignancy
drugs - SSRI, carbamazepine, opiates.

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16
Q

What happens with rapid correction of HYPERnatraemia

A

cerebral odema
occurs in ITU patients

sx include:
thirst confusion, ataxia,

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17
Q

What happens with rapid correction of HYPERnatraemia >148mmol/l

A

cerebral odema
occurs in ITU patients

sx include:
thirst confusion, ataxia, seizures, coma.

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18
Q

What would you see on results of psychogenic polydipsia

A

nothing abnormal, merely symptoms of dry mouth and thirst. often accompied by psychological disease such as schizophrenia

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19
Q

What is the normal range of potassium

A

3.5-5.5

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20
Q

What causes tall tented t waves

A

hyperkalaemia

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21
Q

in what way are potassium and hydrogen linked?

A

every time you drop 0.1 in pH your potassium will go up by 0.7

they work in opposites.

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22
Q

What are the causes of hypokalaemia?

A

ANYTHING WHICH Increases LEVEL OF SODIUM REACHING THE DISTAL NEPHRON

GI loss

Renal Loss - high aldosterone, osmotic diuresis - diabetes.

redistribution into cells - insulin causes entry into vcells as do beta agonsists and an alkalosis

rare causes - renal tubular acidosis
barterr
gitelman

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23
Q

How do you diagnose conns

A

primary hyperaldosteronism

renin aldosterone ratio.

Renin should be low

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24
Q

When you are acidotic you are____kalaemic

A

HYPER

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25
Q

Which tranporter is defective in barrters sydrome

A

triple (permanent frusemide

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26
Q

which transporter is blocked in gitelman syndrome

A

NaCl like having a permanent thiazide diuretic

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27
Q

What are the causes of hyperkalaemia?

A

TRANSCELLULAR MOVEMENT
acidosis
low insulin - DKA
tissue damage - crush injury or haemolysis for example from a prosthetic heart valve.

DECREASED EXCRETION:
low aldosterone - adisons
spironolactone
Acute oliguric renal failure and end stage chronic renal failure
NSIADS and ace inihibitors reduce renin levels and therefore aldosterone.

artifactual: delayed separation - if they say the porters are on strike

also haemolysis is artifactual.

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28
Q

How does addisons present?

A

acutely abdominal pain, hypotensive shock

fatigue
weakness
nausea
vomiting
low grade fever.
CONFUSION
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29
Q

Diabetes insipidus

A

lack of ADH. causes hypernatraemia due to loss of primarily water.

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30
Q

3 causes of euvolemic hyponatraemia

A

SIADH
hypothyroidism
adrenal insufficiency

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31
Q

what is the difference between cushings disease and cushings syndrome

A

disease is do to a pituitary tumour

syndrome is everything

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32
Q

how do you diagnose a cushings disease

A

high dose dexamethasone supression test.

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33
Q

What things precipitate a phaeo to secrete large amounts of adrenaline/noradrenaline

A

alcohol, sex

34
Q

What do you find in the urine of CAH?

A

pregnanetriol.

35
Q

What is CAH?

A

absence of cortisol production often noted at birth due to virilisation due to increased androgen production .
80% also have lack of aldosterone

36
Q

c-anca

A

wegeners

37
Q

goodpastures HLA association?

A

HLA DR2/15

38
Q

what are the causes of low uptake hyperthyroidism? how do you treat them?

A

post partum and de quervains

symptom control such as beta blockers.

39
Q

What type of thyroid tumour produces calcitonin

A

medullary. part of MEN2 due to its parafollicular cell origin

40
Q

What does a fat persons cortisol look like?

A

random will be high but will supress with just low dose

41
Q

which thyroid tumour produces thyroglobulin

A

follicular

42
Q

what is the most common thyroid tumour and how do they present?

A

paillary

thyroid nodule and lymphadenopthy

43
Q

hashimotos is likely to give rise to what?

A

MALToma

44
Q

What are the causes of hypernatraemia

A

less comon -

prettty uch water loss from some system unless they are hypervolaemic in which case it may be caused by hypertonic fluids and conns syndrome

45
Q

causes of cranial and nephrogenic DI?

A

cranial: head trauma, surgery tumour

nephrogenic:
drugs - lithium
inherited
renal failure

46
Q

What causes beri beri

A

b1 deficiency

47
Q

how do you diagnose DI?

A

8hr deprivation test

then give desmopressin.

48
Q

How to you calculate the anion gap

A

(Na+K)-(Cl+HCO3)

49
Q

What is a normal anion gap

A

14-18

50
Q

What are the causes of an elevated anion gap?

A

KULT

Ketones
Urea
Lactate
Toxins

51
Q

how do you calculate the osmolar gap?

A

Measured minus calculated

should be less than 10.

52
Q

Which measure is affected first in the assesment of synthetic liver function?

A

prothrombin time measures the now.

Albumin measures the recent weeks.

53
Q

What does the AST:ALT ration tell you?

A

differentiates alcoholic liver disease and viral hepatitis.

alcohol2: 1
viral1: 1

54
Q

What is the use of GGT

A

allows you to assess the source of the ALP.

however can be raised in chronic alcohol use.

55
Q

what does USS of the bile ducts show?

A

dilated = panc ca, obstructive jaundice.

Undilated = PBC PSC, drugs, preggerz

56
Q

what drugs can cause cholestasis

A

augmentin - last 2-3 weeks.

57
Q

what is the cutoff more micro vs macroadenoma of the pituiatary

A

10mm

58
Q

At what level of prolactin is it a prolactinoma

A

6000

59
Q

What is acid phosphatase used for?

A

measuring spread of prostate Ca

60
Q

What enzyme rises after chemo

A

LDH

61
Q

What cardiac markers return to normal very quickly and can be used to assess a second infarction?

A

myoglobin and CK-MB fall within 48 hours

CK falls in 3 and the others (LDH and trop) take a week

62
Q

What is osteoporosis circumscripta

A

pagets lytic skull lesions

63
Q

What is the mnemonic for organophophate poisining

A

SLUDGE

Salivation
Lacrimation
Urination
Defecation
GI upset
Emesis
64
Q

What are the contraindications to pituitary testting?

A

IHD and epilepsy

it also wont work if they have untreated hypothyroidism.

65
Q

What level indicates an adequate response to stress in pituitary testing?

A

glucos less than 2.2

66
Q

What do you give if the glucose goes too low

A

dextrose 20% 50ml through large bore cannulae

67
Q

What tests can you perform to confirm acromegaly?

A

glucose tolerance test. and you should suppress growth hormone.
IGF-1 test

68
Q

What is the treatment for acromegaly

A

octreotide

69
Q

what is the treatment for urea cycle disorders?

A

reduce the amount of ammonina produced by reducing protein intake and giveing sodium benzoate/phenylacetate

70
Q

which two inborn errors give a high ammonia

A

urea cycle and organic acidurea

71
Q

which two inborn erros give you neutropenia

A

glycogen storage and galactosaemia

72
Q

what type of bilirubin is always pathalogical?

A

conjugated

73
Q

What do you see with APECED

A

candidiasis,
hypoparathyroidism
addisons

AIRE gene

74
Q

coirvosiers law

A

painless palpable gall bladder with jaundice is unlikely to due to gall stone

75
Q

What is the most comon cause of acute hepatitis

A

hep A

76
Q

What are the abnormalities seen in paracetamol overdose?

A

metabolic acidosis with resp compensation

usualy massice ALT/AST mainly ALT.

high INR and low ph are best indicators of need for transplant

77
Q

Where are the portosystemic anastomoses

A

gut
butt
caput

also spleno renal

78
Q

What does MELAS stand for

A

mitochondrial encephalopathy, lactic acidosis and stroke like episodes.

79
Q

which vitamin deficiencies cause dermatitis

A

b3 and b6

niacin - Dementia, diarrhoe, dermatitis

b6 - pyridoxine, dermatitis,anaemia

80
Q

lateral reectus palsy

A

b1 thiamine