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Year 5 > Chem path > Flashcards

Chem path Flashcards

1
Q

What is the most potent LDL lowering drug and what mechanism does it use?

A

evolocumab - a PCKS9 inhibitor.

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2
Q

features of familial hypercholesterolaemia

A

blue/grey ring around the cornea (corneal arcus)
yellow nodules (xanthomas) on tendons and around eye lids

high LDH

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3
Q

How are fractions of bilirubin measured?

A

van der Bergh reaction

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4
Q

the direct reaction of the van der Bergh reaction measures?

A

conjugated bilirubin

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5
Q

the complete reaction of van der Bergh measures?

A

total bilirubin

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6
Q

the indirect reaction of can der Bergh measures?

A

unconjugated bilirubin

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7
Q

what condition is due to the presence of ApoE2

A

Type 3 hyperlipoproteinemia (Familial dysbetalipoproteinaemia)

increased total cholesterol and triglycerides.

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8
Q

What does a defect in CETP cause?

A

hyperalphalipoproteinemia 1 (HALP1) where there are raised levels of HDL-cholesterol.

Cholesteryl ester transfer protein (CETP) mediates the movement of cholesteryl ester from HDL into VLDL/LDL, and the movement of triglyceride from VLDL/LDL into HDL.

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9
Q

What is the mutation that causes Tangier Disease?

A

ABCA1 gene.

  • inability to release cholesterol from the periphery to be picked up by HDL
  • hepatomegaly, splenomegaly, or classically as enlarged orange tonsils in children
  • characterised by low HDL levels in the blood conferring an increased risk of cardiovascular disease.
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10
Q

Which term is used to describe increased bone density?

A

osteosclerosis

e.g. XS vit D; Paget’s, hypoparathyroidism

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11
Q

What is the gold standard investigation for quantification of urinary protein loss, not typically performed in clinical practice?

A

24 hour urine collection

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12
Q

what feature is characteristic of chronic gout?

A

tophi

around joints and ear lobes

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13
Q

Most common affected joint in gout?

A

1st metatarsophalangeal joint

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14
Q

What receptor does ADH affect and where?

A

V2 receptor in the collecting duct

resulting in water reabsorption

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15
Q

what is the main finding in SIADH

A

euvolaemia hyponatraemia
low serum osmolality
high urine osmolality

dx of exclusion

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16
Q

what drug can be used in SIADH if it is resisitant to fluid restriction

A

tolvalptan

V2 antagonist

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17
Q

three causes of euvolaemic hyponatraemia

A

SIADH
adrenal insufficiency
hypothyroidism

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18
Q

three investigations to rule out euvolaemic hyponatraemia

A

urine and serum osmolality
short synacthen
TFTs

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19
Q

first line drug for SIADH

A

demecleocycline

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20
Q

how is Lesch Nyhan syndrome inherited?

A

x-linked recessive

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21
Q

features of Lesch Nyhan syndrome

A

developmental delay
self mutilation
young boy
hyperuricaemia

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22
Q

Treatment plan for hyperkalaemia

A

IV calcium gluconate (cardiac membrane)
IV insulin with dextrose (drive K+ into cells)
Treat underlying cause

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23
Q

What type of DI is lithium therapy associated with

A

nephrogenic

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24
Q

Features of RTA 1

A

Type 1 (Distal Renal Tubular Acidosis)

Profound metabolic acidosis
Hypokalaemia
Renal stones (more alkaline urine means calcium precipitates more easily)
Failure of alpha intercalated cells to secrete H+ and resorb K+

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25
Q

Metabolic change in RTA 1

A

metabolic acidosis

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26
Q

Potassium in RTA 1

A

hypokalaemia

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27
Q

mechanism of RTA 1

A

Failure of alpha intercalated cells to secrete H+ and resorb K+

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28
Q

Features of RTA 2

A

Type 2 (Proximal Renal Tubular Acidosis)

Moderate metabolic acidosis
Hypokalaemia
Failure of proximal tubular cells to reabsorb HCO3-

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29
Q

Metabolic change in RTA 2

A

moderate metabolic acidosis

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30
Q

potassium in RTA 2

A

hypokalaemia

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31
Q

mechanism of RTA 2

A

Failure of proximal tubular cells to reabsorb HCO3-

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32
Q

features of RTA 4

A

Type 4 (Hyperkalaemic RTA)

Adrenal failure
Mild reduction in serum pH
Hyperkalaemic
Caused by a deficiency of aldosterone

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33
Q

potassium in RTA 4

A

hyperkalaemia

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34
Q

mechanism of RTA 4

A

aldosterone deficiency/ Addisons/ Adrenal failure

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35
Q

What is RTA

A

series of heterogenous conditions which describe the failure of the body to acidify the urine

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36
Q

What is Paget’s disease of the bone?

A

focal disorder of bone remodelling with increased bone turnover

leads to localised areas of poorly organised bone overgrowth causing fractures and deformities
Patients may present with localised pain and warmth, loss of hearing and bowing of the legs.

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37
Q

What is the only biochemical abnormality detected in Pagets

A

Alkaline Phosphatase (ALP)

due to the increased action of osteoblasts.

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38
Q

ECG changes in hyperkalaemia

A
  • tall peaked (tented) T waves
  • a shortened QT interval
  • loss of P waves.

can progress to sinusoidal wave

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39
Q

how do you assess for a true hyponatraemia?

A

serum sodium and serum osmolality

A low serum osmolality tells you this is a true hyponatraemia.

A normal or high serum osmolality tells you this is a pseudohyponatraemia.

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40
Q

What is Chvostek’s sign?

A

Hypocalcaemia: involves tapping the facial nerve just anterior to the external auditory meatus and will cause ipsilateral contraction of the facial muscles

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41
Q

what is trousseau sign?

A

Hypocalcaemia: blood pressure cuff is used to occlude the brachial artery for a few minutes, may demonstrate spasms of the muscles of the hand and forearm.

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42
Q

How can rhabdomyolysis be diagnosed?

A

A serum creatine kinase measurement greater than 5 times the upper limit of normal

Raised serum myoglobin which leads to myoglobinuria (Dark brown urine)

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43
Q

what is a normal anion gap range

A

14-18

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44
Q

how do you calculate anion gap

A

(Na + K) - (Cl + HCO3)

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45
Q

Causes of raised anion gap

A

G: Glycols (ethylene glycol and propylene glycol) [overdose]
O: Oxoproline [chronic paracetamol use, usually malnourished women]
L: L-lactate [sepsis]
D: D-lactate [short bowel syndrome]
M: Methanol [overdose]
A: Aspirin [overdose. Initially causes respiratory alkalosis but in moderate/severe overdose causes metabolic acidosis]
R: Renal failure
K: Ketoacidosis [DKA, alcoholic, starvation]

KULT
K- Ketoacidosis
U- Uraemia
L- Lactate
T- Toxins: glycols, salicylates, oxoproline

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46
Q

Causes of normal anion gap

A

Hyperalimentation
Addison
RTA (bicarb loss)
Diarrhoea (bicarb loss)
Acetozolamide
Spironolactone
Saline (chloride gain)

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47
Q

how do you calculate osmolality

A

2Na + urea + glucose

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48
Q

osmolality is measured where

A

lab

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49
Q

osmolarity is measured where

A

by you

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50
Q

where is cholecalciferol converted to 25-hydroxycholecalciferol?

by what enzyme?

A

liver

by 25 hydroxylase

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51
Q

What HbA1c is normal?

A

< 42 mmol/mol

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52
Q

what is the difference in action between alendronic acid and denosumab

A

Bisphosphonates reduce bone turnover and hence can prevent progression of osteoporosisBisphosphonates do not directly increase bone density. The only treatment that directly increases bone density in osteoporosis is denosumab.

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53
Q

what is the MoA of orlistat

A

Inhibits lipases from breaking down triglycerides into free fatty acids which can then be absorbed from the gut.

A side effect of this is steatorrhoea and patients are advised to follow a low-fat diet to reduce this side effect.

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54
Q

what does a Hypoglycaemia with high insulin and low C-peptide suggest

A

exogenous source of insulin

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55
Q

what does a Hypoglycaemia with high insulin and high C-peptide suggest

A

endogenous source of insulin

  • insulinoma
  • inborn errors of metabolism
  • sulfonylureas due to increased release of endogenously produced insulin
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56
Q

How can you exclude factitious hypoglycaemia?

A

A Sulfonylurea screen is useful in distinguishing an insulin-secreting tumour from surreptitious sulfonylurea ingestion.

Factitious hypoglycaemia may be caused by surreptitious use of insulin or sulfonylureas

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57
Q

ApoE4 classically gives an increased risk of developing which neurodegenerative condition?

A

Alzheimer’s disease

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58
Q

The T score in DEXA scans describes?

A

how bone density varies compared to that of a young healthy population

T for Teenagers

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59
Q

The Z score in DEXA scans describes?

A

describes how the patient’s bone mass varies compared to an age matched control and is useful in identifying accelerated bone loss relative to age

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60
Q

Where in the gut are bile acids reabsorbed?

A

terminal ileum

This enterohepatic circulation of bile acids minimises the conversion of cholesterol into new bile acids.

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61
Q

how does cholestyramine work to reduce cholesterol?

A

binds to bile acids in the gut stopping them from being reabsorbed

liver then has to convert greater amounts of cholesterol into bile acids in order to maintain adequate secretion of bile acids into the biliary system, lowering cholesterol levels

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62
Q

Vitamin D def effect on calcium

A

low

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63
Q

Vitamin D def effect on phosphate

A

low

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64
Q

Vitamin D def effect on ALP

A

raised

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65
Q

What class of drug must not be co-administered with azathioprine in individuals with TPMT deficiency, else a potentially fatal buildup of toxic metabolites may occur?

A

Xanthine Oxidase inhibitors e.g. allopurinol

results in profound leukopenia and death

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66
Q

Levels of what enzyme must be checked before starting azathioprine?

A

Thiopurine methyltransferase

TPMT deficiency is a congenital deficiency in an enzyme used to convert 6-mercaptopurine, a breakdown product of azathioprine, into less toxic, excretable metabolites.
Leads to a buildup of toxic metabolites that may lead to profound leukopenia and death.

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67
Q

Which enzyme forms the rate limiting step in de novo purine synthesis?

A

Phosphoribosyl pyrophosphate amidotransferase (PAT)

responsible for the conversion of PRPP into PRA

This is the rate limiting step in the de novo synthesis of purines.

Guanylic acid (GMP) and adenylic acid (AMP) exert negative feedback on PAT.

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68
Q

Blood tests show grossly raised levels of plant sterol in blood. Which autosomal recessive disorder do they have?

A

Phytosterolemia

The raised levels of non-cholesterol sterols presents with premature atherosclerosis and tendon xanthomas.

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69
Q

Which proteins are involved in regulating the absorption and excretion of cholesterol and non-cholesterol sterols.

A

ABCG5 and ABCG8

genes encoding transporter proteins sterolin-1 and -2 respectively

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70
Q

Causes of Fanconi syndrome

A

Congenital
Wilson’s disease (To be even more unhelpful, Wilson’s is also associated with Type 1 Renal Tubular Acidosis)
Tetracyclines
Multiple Myeloma
Lead poisoning

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71
Q

Signs and symptoms of fanconi syndrome

A

Polyuria, polydipsia and dehydration (due to glucosuria)
Growth failure (in children)
Metabolic acidosis (Type 2 Renal Tubular Acidosis)
Hypokalaemia
Proteinuria
Hyperuricosuria

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72
Q

what are the two ways 6-mercaptopurine are cleared from the body

A

TPMT and xanthine oxidase

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73
Q

Under polarised light, what colour would you expect needle shaped crystals to appear when parallel to a red filter?

A

orange

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74
Q

Under polarised light, what colour would you expect needle shaped crystals to appear when perpendicular to a red filter?

A

blue

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75
Q

in rickets, what are the bony abnormalities

A

Widening of the bones at the wrist and knees (sites of rapid bone growth)

bowing of the legs

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76
Q

impaired fasting glucose

A

fasting plasma glucose between 6.1 - 6.9 mmol/L

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77
Q

impaired glucose tolerance

A

2 hour oral glucose tolerance test plasma glucose 7.8 - 11.0 mmol/L.

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78
Q

why is there raised phosphate in CKD

A

inability to excrete phosphate

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79
Q

features of salicylate overdose

A

N&V
room spinning
high pitched tinnitus
tachypnoea, resp distress
fever

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80
Q

features of paracetamol overdose

A

abdo pain
N&V
liver damage/failure

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81
Q

ABCD of normal anion gap

A

Addisons
Bicarbonate loss
Chloride again
Drugs e.g. acetozolamide

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82
Q

In familial hypocalciuric hypercalcaemia (FHH), which receptor has suffered a mutation?

A

Calcium Sensing Receptor

In FHH a mutation of this receptor causes it to be relatively insensitive to calcium
This results in a greater release of PTH in response to a normal calcium level (overall greater calcium retention)

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83
Q

what does the Calcium Sensing Receptor regulate?

A

PTH release

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84
Q

where is the Calcium Sensing Receptor found

A

parathyroid gland

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85
Q

how can familial hypocalciuric hypercalcaemia be differentiated from primary hyperparathyroidism

A

calcium/creatinine clearance ratio measured from a 24 hour urine collection tends to be lower in FHH than in primary hyperparathyroidism.

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86
Q

what gene is tested for to diagnose FHH

A

CASR

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87
Q

What vitamin converts cyanide to a renally cleared, less toxic, metabolite and is the first line medication for cyanide poisoning?

A

hydroxocobalamin

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88
Q

Vitamin A

A

retinol

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89
Q

Vitamin B1

A

thiamine

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90
Q

Vitamin B2

A

riboflavin

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91
Q

Vitamin B3

A

niacin

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92
Q

vitamin B6

A

pyridoxine

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93
Q

vitamin B12

A

cobalamin

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94
Q

vitamin C

A

ascorbate

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95
Q

vitamin D

A

cholecalciferol

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96
Q

vitamin E

A

tocopherol

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97
Q

vitamin K

A

phytomenadione

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98
Q

Excess Vitamin A

A

Exfoliation hepatitis

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99
Q

Deficiency in Vitamin A

A

colour blindness

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100
Q

test for vitamin A

A

serum

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101
Q

deficiency in vitamin B1

A

Beri-Beri
Neuropathy
Wernicke Syndrome

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102
Q

test for vitamin B1

A

RBC transketolase

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103
Q

deficiency in vitamin B2

A

Glossitis

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104
Q

test for vitamin B2

A

RBC glutathione reductase

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105
Q

deficiency in vitamin B3

A

Pellagra

– 3Ds Dementia, dermatitis, diarrhoea

106
Q

deficiency in vitamin B6

A

Dermatitis/ anaemia

107
Q

excess vitamin B6

A

Neuropathy

108
Q

test for vitamin B6

A

RBC AST activation

109
Q

deficiency in vitamin B12

A

Neuropathy
sub-acute combined degeneration of the cord

110
Q

test for vitamin b12

A

serum b12

111
Q

deficiency in vitamin C

A

scurvy

112
Q

excess in vitamin C

A

renal stones

113
Q

test for vitamin C

A

plasma

114
Q

deficiency in folate results in

A

neural tube defects
megaloblastic anaemia

115
Q

test for folate

A

RBC folate

116
Q

deficiency in vitamin D

A

rickets
osteomalacia

117
Q

excess vitamin D

A

hypercalcaemia

118
Q

test for vitamin D

A

serum

119
Q

deficiency in vitamin E

A

Anaemia /neuropathy/IHD

120
Q

test for vitamin E

A

serum

121
Q

deficiency in vitamin K

A

clotting problems

122
Q

test for vitamin K

A

PT

123
Q

excess iron

A

haemochromatosis

124
Q

deficiency in iron

A

hypochromoc anaemia

125
Q

test for iron

A

FBC
Fe and binding studies
Ferritin

126
Q

deficiency in iodine

A

hypothyroidism
goitre

127
Q

excess iodine

A

Hypo/Hyperthyroid (Jod-Basedow/Wolf- Chaicoff effects)

128
Q

tests for iodine

A

TFTs

129
Q

deficiency in zinc

A

dermatitis

130
Q

deficiency in copper

A

anaemia

131
Q

test for copper

A

Cu
caeruloplasmin

132
Q

excess in copper

A

Wilson’s disease

133
Q

deficiency in fluoride

A

dental caries

134
Q

excess in fluoride

A

fluorosis

135
Q

vitamin deficiency in Crohns

A

B12 deficiency
fat-soluble vitamins (ADEK)

136
Q

vitamin deficiency in coeliac

A

Iron deficiency
Vitamins ADEK
thiamine
Vitamin B6
folate

137
Q

vitamin deficiency in CLD

A

Vitamins ADEK
B12
Selenium
Magnesium
Zinc
folate

138
Q

vitamin deficiency in CKD

A

Protein energy wasting syndrome

139
Q

vitamin deficiency in pancreatic insufficiency

A

Vit ADEK

140
Q

what is refeeding syndrome

A

Refeeding syndrome describes the physiological consequences of rapid reintroduction of nutrition to a chronically malnourished person. This causes fluid shifts which result in electrolyte abnormalities. Refeeding syndrome can lead to cardiac failure and is potentially fatal.

141
Q

features of cyanide poisoning

A

inhalation of smoke in house fire

confusion
coughing up black sputum
bitter almond taste
tachycardia
hypertensio
first degree AV block

142
Q

What is the most important blood test in the assessment of an unconscious patient?

A

blood glucose

143
Q

what complication is most commonly associated with rapid corrections of hyponatraemia

A

central pontine myelinolysis

144
Q

what are the two pathways that purine can be synthesised

A

de novo

salvage pathway

145
Q

which purine synthesis pathway predominates in most tissues and is more efficient

A

salvage

146
Q

What is the inheritance pattern of Gilbert’s syndrome?

A

autosomal recessive

147
Q

what sort of bilirubinaemia does Gilberts cause

A

isolated unconjugated hyperbilirubinaemia

148
Q

what dermatological finding is associated with insulin resistance

A

acanthosis nigricans

149
Q

what can be the cause of a low anion gap

A

hypoalbuminaemia

150
Q

how can you distinguish chronic and acute respiratory acidosis/alkalosis?

A

the degree of metabolic compensation

151
Q

What does Cholestyramine bind to in the gut in order to cause the liver to break down more cholesterol?

A

bile acids

152
Q

What do bacteria in the gut convert bilirubin into which gives stool its characteristic brown colour?

A

stercobilin

153
Q

is unconjugated bilirubin water soluble

A

no

154
Q

is unconjugated bilirubin lipid soluble

A

YES

155
Q

is conjugated bilirubin water soluble

A

yes

156
Q

how is conjugated bilirubin removed in the faeces

A

bacteria in the gut convert it into stercobilin via stercobilinogen

stercobilin gives stool its brown colour

157
Q

Looser’s zones are a pathognomonic X-ray finding of which condition?

A

osteomalacia

pseudofractures lying perpendicular to the surface of the bone. They are seen in osteomalacia as a result of defective bone mineralisation and are often bilateral and symmetrical.

158
Q

What kind of inheritance is shown by the Multiple Endocrine Neoplasia syndromes?

A

autosomal dominant

men dominant

159
Q

how is osmolar gap calculated

A

osmolality (lab) - osmolarity (your calc)

160
Q

what is normal osmolar gap

A

<10

161
Q

how is osmolality calculated

A

2(na+k) + glucose + urea

162
Q

what can a raised OSMOLAR gap be due to

A

presence of something that our tests cannot measure directly.
For instance, an unexplained metabolic acidosis (usually in the context of overdose) with a raised anion and raised osmolar gap can only be due to:

  • glycol
  • ethanol
  • mannitol
  • methanol
163
Q

when is the Guthrie test done

A

6 days

164
Q

what condition are checked for in Guthrie test

A

Phenylketonuria
congenital hypothyroidism
cystic fibrosis
sickle cell disease
MCAD (medium chain acylCoA dehydrogenase) deficiency

165
Q

what causes phenylketonuria

A

phenylalanine hydroxylase deficiency

166
Q

how do you screen for PKu

A

phenylalanine levels

167
Q

what causes congenital hypothyroidism

A

dysgenesis/agenesis of the thyroid gland

screen with TSH

168
Q

what causes cystic fibrosis

A

Mutation in CFTR - viscous secretions → ductal blockages

169
Q

how do you assess for cystic fibrosis

A

immune reactive trypsin

if positive do a DNA mutation detection test

170
Q

what is Medium Chain AcylCoA dehydrogenase Deficiency

A

Fatty acid oxidation disorder

171
Q

how is Medium Chain AcylCoA dehydrogenase Deficiency detected

A

Acylcarnitine levels by tandem Mass Spectrometry

172
Q

what does Specificity mean?

A

probability (in %) that someone without the disease will correctly test negative

85 people without CF in total, and 80 actually test negative. Specificity is 80/85=94% (much easier to think like this than memorise formulae!)

173
Q

what does Sensitivity mean

A

the probability that someone with the disease will correctly test positive

100 people with CF in total, and 90 actually test positive. Sensitivity is 90/100=90%

174
Q

what does positive predictive value mean?

A

probability that someone who tests positive actually has the disease

95 people tested positive of which 90 had the disease. PPV= 90/95 = 95%

175
Q

what does negative predictive value mean?

A

probability that someone who tests negative actually doesn’t have the disease

90 people test negative, 80 didnt have the disease. NPV= 80/90= 89%

176
Q

what is ornithine transcarbamylase deficiency

key features

A

urea cycle disorder

  • High ammonia (>200uM) leading to encephalopathy and developmental delay
  • Respiratory alkalosis
  • Vomiting?diarrhoea
  • Treat with low protein diet (stops urea formation)
177
Q

what do urea cycle disorders result in

A

high ammonia

178
Q

how are urea cycle disorders inherited

A

autosomal recessive

179
Q

which urea cycle disorder is not autosomal recessive

A

ornithine decarboxylase deficiency

180
Q

why are glutamine levels high in urea cycle disorders

A

The body is incapable of excreting a very high level of ammonia, so, instead, the body will attach an ammonium group to glutamate to make glutamine

This means that plasma glutamine in hyperammoniaemic conditions will be high

181
Q

treatment of urea cycle disorders

A

Remove ammonia (using sodium benzoate or sodium phenylacetate or dialysis)

Reduce ammonia production (low protein diet)

182
Q

what is the metabolic state in organic acidurias

A

Hyperammonaemia with Metabolic ACIDOSIS and High Anion Gap

183
Q

what causes organic acidurias

A

These are caused by defects within the complex metabolism of the branched chain amino acids (leucine, isoleucine and valine)

184
Q

key features of organic acidurias

A

funny smelling urine
High urea, ketones
Metabolic acidosis

185
Q

features of a child with PKU

A

blue eyes and fair hair/skin Retardation

186
Q

two examples of aminoacidopathies

A

PKU
Maple Syrup Urine Disease

187
Q

characteristic feature in maple syrup urine disease

A

sweaty feet

188
Q

what do Mitochondrial Fatty Acid Beta-Oxidation disorders cause

A

hypoketotic hypoglycaemia

If you are unable to make ketones, it suggests that you are unable to break down fatty acids

189
Q

Mitochondrial Fatty Acid Beta-Oxidation disorde example

A

MCADD

190
Q

features of MCADD

A

hepatomegaly
cardiomyopathy
rhabdomyolysis

191
Q

how do you screen for MCADD

A

Screened with blood acylcarnitine
Test urine organic acids

Treat with regular carbohydrate

192
Q

what is galactosaemia

A

disorder of breaking down carbohydrates

avoid milk

193
Q

what is the most severe form of galactosaemia

A

Galactose-1-phosphate uridyl transferase (Gal-1-PUT) deficiency

also the most common

194
Q

key presenting feature of galactosaemia

A

conjugated hyperbilirubinaemia

poor feeds
retinopathy

195
Q

what is Von Gierke disease

A

a glycogen storage disorder

196
Q

what happens in a glycogen storage disorder

A

Whenever you break down glucose, you make glucose-1-phosphate or glucose-6-phosphate and then the phosphate groups have to be removed (because they are high energy groups meaning that the molecule CANNOT get across the membrane with the phosphate attached)

Without a phosphatase, the G6P and G1P cannot be exported

This results in your muscles and your liver building up loads of glycogen which cannot be liberated and so you become hypoglycaemic

197
Q

key finding in glycogen storage disorder like Von Gierke

A

hypoglycaemia

198
Q

MELAS, Kearn’s, Sayre, POEMS are all examples of

A

mitochondrial disorders

199
Q

CDG type 1a is a type of

A

glycosylation disorder due defect of post-translational protein glycosylation

200
Q

how do you investigate glycosylation disorder

A

Measure serum transferrins

201
Q

what is diagnostic of mitochondrial disorders

A

high lactate and CK

Muscle biopsy diagnostic

202
Q

what type of disorder is Tay Sachs

A

Lysosomal disorders

Very slow progressing
Neuroregression, hepatosplenomegaly Cardiomyopathy
Test urine mucooligopolysaccharides and WBC enzyme levels

203
Q

difference in pH in HHS and DKA

A

DKA < 7.3
HHS > 7.3

204
Q

osmolality in HHS

A

> 320

205
Q

blood glucose in HHS

A

> 30

206
Q

In general, what pH imbalance is associated with hypokalaemia?

A

alkalosis

low potassium means, potassium leaves cells into blood in exchange for protons causing an alkalosis

207
Q

Hyperinsulinaemic hypoglycaemia causes [3]

A
  • Insulin overdose
  • Sulfonylurea excess
  • Insulinoma
208
Q

hypoinsulinaemic hypoglycaemia causes

A

+ve ketones
o Alcohol binge with no food
o Pituitaryinsufficiency
o Addison’s
o Liverfailure

-ve ketones
o Non pancreatic neoplasms
o Fibrosarcomata
o Fibromata

209
Q

main investigation finding in Conn’s syndrome

A

raised aldosterone:renin levels

210
Q

main investigations in phaeochromocytoma

A

Plasma and 24h urinary metadrenaline measurement/ catecholamines & VMA

211
Q

main investigation for Cushings

A

1st line: Overnight dexamethasone suppression test or 24h urinary free cortisol. +ve suggests true Cushing’s syndrome

inferior pituitary petrosal sinus sampling

212
Q

main investigation for Addison’s

A

SynACTHen test

213
Q

glucose levels in Addisons

A

low

214
Q

how do you differentiate ectopic ACTH and pituitary ACTH secretion

A

using high dose dexamethasone

low dose dexamethasone does not suppress ectopic ACTH

215
Q

reasons for hypernatraemia in a neonate

A

dehydration
overly concentrated milk formula

216
Q

reasons for hypernatraemia in a neonate

A

dehydration
overly concentrated milk formula

217
Q

reasons for hyponatraemia in a neonates

A

excess water intake
immature tubular function
factitious
CAH

218
Q

normal GFR

A

120 ml/hr

219
Q

age related decline in GFR rate

A

1ml/hr/yr

220
Q

definition of clearance

A

the volume of plasma that can be completed cleared of a marker substance in a unit of time.

221
Q

when can clearance = GFR

A

If marker is not bound to serum proteins, freely filtered by the glomerulus, and not secreted/reabsorbed by tubular cells

222
Q

gold standard measure of GFR

A

inulin

223
Q

which endogenous marker is used for assess renal function

A

creatinine

224
Q

gold standard for assessing proteinuria

A

protein:creatinine ratio (PCR)

225
Q

3 definitions of AKI

A

1- Rise in serum creatinine over 26 within 48h

2- A 50% or greater rise in serum creatinine known or presumed to have occurred within the past 7 days

3- A fall in urine output to less than 0.5mL/kg/hour for more than 6 hours.

226
Q

what are the 5 indiciations for dialysis

A

AEIOU
a- acidosis
e- electrolyte disturbance e.g. refractory hyperkalaemia
I- intoxication e.g. lithium ,aspirin
o- overload (fluid) e.g. pulmonary
u- uraemic encephalopathy

227
Q

how is haemodialysis delievered

A

tessio line or AV fistula

228
Q

how is peritoneal dialysis delivered

A

via a Tenckoff catheter using the peritoneum as a dialysis membrane

done at home

229
Q

which life long immunosuppression is used post kidney transplant

A

tacrolimus or ciclosporin

230
Q

which scar shows a kidney transplant may have been done for the patient

A

Rutherford Morrison (hockey stick)

231
Q

4 consequences of CKD

A
  • homeostasis failure
  • hormonal function failure
  • cardiovascular disease
  • uraemia and death
232
Q

what is the defect in maple syrup urine disease

A

alpha ketoacid dehydrogenase

233
Q

low sodium but high serum osmolality

A

glucose/mannitol infusion

234
Q

low sodium but normal serum osmolality

A

pseudohyponatraemia

drip arm sample

235
Q

what is TURP syndrome

A

hyponatraemia from irrigation absorbed through damaged prostate

236
Q

Hyperaldosterone picture with raised Na, low K, HTN but raised renin

A

renal artery stenosis

237
Q

Man who has been in a car accident, raised sodium and plasma osmolality, low urine osmolality

A

Cranial diabetes inspidus

238
Q

what would the urinary sodium be in a hypovolaemic patient

A

low

attempt to retain water
exception is diuretics where sodium will be high in the urine regardless

239
Q

diagnostic criteria for SIADH

A

True hyponatraemia (<135)
low plasma/serum osmolality (<270)
high urine sodium (>20)
high urine osmolality (>100)
no adrenal/thyroid/renal dysfunction

low serum high urine

240
Q

most common cause of SIADH

A

small cell lung cancer

241
Q

what does aldosterone stimulate the transcription of

A

ENaC channels

242
Q

causes of hyperkalaemia

A
  • Reduced GFR
  • Reduced renin activity
    o Type 4 renal tubular acidosis (diabetic nephropathy)
    o NSAIDs
  • ACE inhibitors
  • Angiotensin receptor blockers
  • Addison’s disease
  • Aldosterone antagonists
  • Potassium release from cells
243
Q

causes of hypokalaemia

A
  • GI loss
  • Renal loss
    o Hyperaldosteronism, Cushing’s syndrome
    o Increased sodium delivery to the distal nephron
    o Osmotic diuresis
  • Redistribution into cells
    o Insulin
    o Beta agonists
    o Alkalosis
  • RARE causes:
    o Renal tubular acidosis type 1 and 2
    o Hypomagnesaemia
244
Q

how you distinguish between a prolactinoma and a non-functional adenoma?

A

prolactin levels in prolactinoma >6000
prolactin levels in non-functional adenoma 1000-5000

245
Q

Raised prolactin, raised TSH, raised T4

A

TSHoma

246
Q

what is the preferred investigation for cushings

A

inferior petrosal sinus sampling

247
Q

test for Addisons

A

short synacthen

248
Q

low plasma sodium, low urine sodium

A

primary polydipsia

249
Q

what is the water deprivation test finding for primary polydipsia

A

urine does concentrate but not to normal levels (400-600)

250
Q

what enzyme is raised in mumps

A

amylase-S

251
Q

phosphate levels in secondary hyperparathyroidism vs osteomalacia/rickets

A

high in secondary due to CKD making it difficult to excrete phosphate leading to this retention

low in osteomalacia due to vitamin D deficiency as low vitamin D means no phosphate absorption from the gut

252
Q

how can glucose be given to a hypoglycaemic patient with no IV access

A

IM glucose

253
Q

acute treatment options for gout

A

NSAIDs
colchicine
corticosteroids

254
Q

chronic treatment options for gout

A

allopurinol
probenecid

255
Q

which enzyme is elevated in cardiac failure

A

brain natriuretic peptide

256
Q

A man develops signs of hyperthyroidism. Bloods show low TSH and high thyroxine. A technetium scan shows no uptake. What is the likely diagnosis?

A

de quervains

257
Q

normal range for urine specific gravity

A

1.005 and 1.030

258
Q

21 hydroxylase deficiency

A

most common

low aldosterone
high sex hormones

259
Q

second most common cause of CAH

A

11 beta hydroxylase def

260
Q

which cause of CAH leads to a salt losing crisis

A

21 hydroxylase

261
Q

which enzyme deficiency allows for mineralocorticoid activity

A

11 beta hydroxylase activity

262
Q

why does an insulinoma reduced FFA levels

A

insulin suppresses lipolysis

Year 5 (13 decks)

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