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Phase 1 - S2 Metabolism, Endocrinology, Haematology > clinical conditions > Flashcards

clinical conditions Flashcards

1
Q

what drug is given to alcoholics and how does it work

A

disulfiram - inhibits aldehyde dehydrogenase

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2
Q

what are the results of prolonged alcohol consumption

A
  • the increased acetyl CoA causes a fatty liver

- the decreased amount of NAD+ leads to lactic acidosis, gout and hypoglycaemia

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3
Q

what is marasmus

A

deficiency in all nutrients leading to inadequate energy intake

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4
Q

what is kwashiorkor

A

protein deficiency but adequate energy intake

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5
Q

what are the consequences of kwashiorkor

A

develop fatty liver as theres no proteins too mobilise the fats in the liver
also oedema as albumin cant be produced so this lowers the oncotic pressure in the blood

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6
Q

what is refeeding syndrome

A

when those suffering from marasmus and kwashiorkor are given too much foo too fast and so they don’t have the enzymes to break down the food leading to a build up of ammonia

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7
Q

name some inhibitors of the ETC

A

cyanide and carbon monoxide

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8
Q

how do ETC inhibitors work

A

they bind to the terminal translocating complex preventing oxygen from binding

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9
Q

name some ETC uncouplers

A

dinitophenol, thermogenin, fatty acids

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10
Q

how do uncouplers work

A

they increase the permeability of the inner mitochondrial membrane, dissipating the hydrogen ion gradient, reducing the proton motive force

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11
Q

what drug is given to patients with high cholesterol levels and how does it work

A

statins works by inhibiting the enzyme HMG CoA reductase

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12
Q

what do ROS cause

A

lipid peroxidation, disulphide bridge formation, DNA damage, protein damage

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13
Q

what are the cellular defences against ROS

A
  • superoxide dismutase converts superoxide to hydrogen peroxide then catalase converts this to oxygen and water
  • glutathione
  • vitamins A,C and E
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14
Q

what is galactosemia

A

deficiency in either galactokinase, UDP-galactose epimerase or uridyl transferase (most common)

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15
Q

what are symptoms of galactosemia

A

cataracts, renal failure, vomiting, brain damage

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16
Q

why does galactosemia lead to oxidative stress

A

the build up of galactose is converted by aldose reductase into galacticol (causing cataracts) this uses NADPH needed for cellular defence

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17
Q

what type of drug depletes NADPH

A

anti-malarials

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18
Q

how does a G6PDH deficiency affect ROS

A

less NADPH is produced which is used to reform glutathione

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19
Q

what is seen in a G6PDH deficiency

A

Heinz bodies which are aggregates of cross linked haemoglobin in RBC due to protein damage from ROS

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20
Q

how is paracetamol normally metabolised

A

broken down in the hepatocyte and conjugated with sulphate

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21
Q

what happens in a paracetamol overdose

A

NAPQI is produced which Is conjugated with glutathione but this gives less cellular defences against ROS

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22
Q

what drug is given in a paracetamol overdose

A

acetylcysteine which replenishes glutathione

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23
Q

what is the heel prick test

A

blood screen test in newborns to test for various diseases such as sickle cell, PKU

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24
Q

what is phenylketonuria

A

deficiency in phenylalanine hydroxylase giving s build up of phenylalanine which is converted to phenylketonuria

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25
Q

what is the treatment for PKU

A

low phenylalanine diet, avoid food high in protein

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26
Q

what are the symptoms of PKU

A

intellectual disability, seizures, hypopigmentation

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27
Q

what cant be produced in PKU

A

tyrosine

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28
Q

what is homocystinuria

A

deficiency in cystathioine beta synthase so methionine cant be broken down into cysteine giving a build up of homocysteine

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29
Q

what co factor is required by cystathioine beta synthase

A

vitamin B6

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30
Q

what is Von Gierke’s disease

A

deficiency in glucose 6 phosphatase

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31
Q

what occurs in lactose intolerance

A

don’t have the enzyme lactase so cant break down lactose in glucose and galactose

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32
Q

what are the different types of lactose intolerance

A

primary - occurs in adults as their lactase allele doesn’t persist
secondary - seen in children due to injury of small intestine
congenital - defect in the lactase gene

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33
Q

what occurs in type 1 hyperlipoproteinaemia

A

where there is a defective lipoprotein lipase

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34
Q

what occurs in type IIa hyperlipoproteinaemia

A

defective LDL receptor

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35
Q

what occurs in type 3 hyperlipoproteinaemia

A

defective apoE

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36
Q

what are the treatments for hyperlipoproteineamia

A

statins, bile salt seqestrants, increasing exercise, increasing fibre, reduce smoking

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37
Q

how do bile salt seqestrants help in hyperlipoproteinaemia

A

they bind to bile acids so that more are secreted meaning more cholesterol has to be used to make more bile

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38
Q

what are the symptoms of hypercholesterolaemia

A

xanthelasma, tendon xanthoma and corneal arcus

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39
Q

how do LDLs lead to atherosclerotic plaques

A

due to their long half lives they are susceptible to oxidative damage. they are then engulfed by macrophages becoming foam cells which accumulate in the blood vessel walls

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40
Q

what do vit B12 deficiencies result from

A

dietary deficiency, autoimmune disease causing reduced IF production e.g. crohns

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41
Q

what can cause reduced erythropoiesis

A
  • chronic kidney disease
  • chemotherapy giving empty bone marrow
  • viruses
  • bone marrow infiltration by cancer cells
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42
Q

what are myrloproliferative disorders

A

overproduction of bone marrow cells

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43
Q

in hereditary spherocytosis which membrane proteins are affected

A

ankyrin and protein 4.2

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44
Q

what is haemolytic anaemia

A

increased RBC destruction

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45
Q

name 2 bone marrow tests

A
  • trephine biopsy (remove bone marrow from iliac crest)

- aspiration (remove bone marrow cells)

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46
Q

what is haemochromatosis

A

excess iron causing organ failure due to deposition

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47
Q

what gene is mutated in hereditary haemochromatosis

A

HFE - now the HFE cant bind to transferrin receptors meaning too much iron enters cells

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48
Q

what does hepcidin do

A

binds to ferroportin channels preventing iron absorption from erythrocytes

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49
Q

when and where is hepcidin secreted

A

from the kidneys in iron overload

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50
Q

what is tested to look for an iron deficiency

A

ferritin levels (but this is an acute phase protein) and reticulocyte count (low in thalasaemias)

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51
Q

what is histologically seen in hyposplenism

A

Howell jolly bodies - DNA remnants in RBCs as the spleen isn’t removing these RBCs

52
Q

what infections are patients with hyposplenism particularly at risk from with hyposplenism

A

pneumococcus, haemophilius influenza, meningococcus (encapsulated bacteria)

53
Q

when is eosinophilia seen

A

asthma, parasite infection, allergic reactions, drug hypersensitivity

54
Q

what is the most common cause of a goitre world wide

A

iodine deficiency

55
Q

what is the most common cause of a goitre in the uk

A

multinodular goitre

56
Q

what causes hypothyroidism

A

autoimmune (Hashimotos disease), TSH/TRH deficiency, inadequate iodine, removal of glands failure of gland

57
Q

what are the symptoms of hypothyroidism

A

obesity, intolerance to cold, hoarse voice, bradycardia, puffy face, hair loss, menorrhagia

58
Q

what is hypothyroidism in infants called

A

cretinism - gives dwarfed statue, poor bone development, muscle weakness

59
Q

what is hypothyroidism in adults called

A

myxoedema - thick puffy skin, muscle weakness, mental deterioration

60
Q

what is the treatment for hypothyroidism

A

oral thyroid hormone

61
Q

what happens to TSH/TRH levels in hypothyroidism

A

they increase

62
Q

what is used to view the thyroid glands

A

technetium 99

63
Q

what are the causes of hyperthyroidism

A

toxic adenoma, toxic multinodular goitre, graves disease

64
Q

what are the symptoms of hyperthyroidism

A

weight loss, intolerance to heat, tachycardia, increased appetite, warm sweaty hands, lid lad and starring eyes

65
Q

what symtoms are specific to graves disease

A

pre-tibial myxoedema and bulging eyes

66
Q

what is used to treat hyperthyroidism and how does it work

A

carbimazole which is converted into methimazole which prevents thyroid peroxidase

67
Q

what is lingual thyroid

A

when part of the thyroid gland stays on the tongue

68
Q

what is thyroglossal duct cyst

A

not all of the thyroglossal duct degenerates - it moves up on tongue protrusion

69
Q

which cancers have osteoclastic bone metastases

A

breast, lung, thyroid, renal

70
Q

what cancer has osteoblastic bone metastases

A

prostrate

71
Q

what cancer produced parathyroid hormone related peptide

A

squamous tumours

72
Q

what is primary hyperparathyroidism

A

PTH secreting adenoma

73
Q

what is secondary hyperparathyroidism

A

when the parathyroid glands become hyperplastic either due to osteomalacia or renal osteodystrophy

74
Q

what is osteomalacia

A

lack of vitamin D

75
Q

what is renal osteodystrophy

A

renal failure giving low serum calcium

76
Q

what are the symptoms of hyperparathyroidism

A

MOANS - tired, depressed
BONES - bone and muscle aches
STONES - kidney stones
GROANS - abdominal pain, constipation, ulcers

77
Q

what is the difference between osteomalacia and osteoporosis

A

osteomalacia is where there is also a loss of minerals as well as bone

78
Q

what can ALP show about bone turnover

A

it has increased showing osteoblast activity

79
Q

what symptoms are seen in hypocalaemia

A

tingling and tetany

80
Q

pituitary tumours impinging on the optic chiasm result in what

A

bitemporal hemi-anopia vision and headache

81
Q

what does a deficiency in growth hormone result in in children

A

dwarfism

82
Q

what are non-functioning pituitary adenomas

A

tumours which block the movement of hormones from the hypothalamus to the anterior pituitary gland therefore the pituitary gland is not stimulated

83
Q

what is prolactinoma

A

prolactin secreting tumour

84
Q

what are the effects of prolactinoma

A

menstrual disturbances, fertility problems, galactorrhoea,

85
Q

what do you treat a prolactinoma with

A

dopamine as this is a prolactin inhibitor

86
Q

if the prolactin level is above 5000 what is the likely cause

A

prolactin secreting tumour

87
Q

if the prolactin level is increased but is still below 5000 what is the likely cause

A

non-functioning pituitary adenoma

88
Q

how do you treat a non-functioning pituitary adenoma

A

surgery

89
Q

what pituitary hormones require a dynamic blood test

A

GH and ATCH

90
Q

what do dynamic blood tests involve

A

stimulation and suppression tests

91
Q

what condition results from an excess of GH

A

acromegaly

92
Q

what results from an ADH deficiency `

A

diabetes insipidus - causes more aqua porins to be placed in the kidneys so you lose more water giving large volumes of pale urine

93
Q

what is ADH also known as

A

vasopressin

94
Q

what is pheachromocytoma

A

a chromaffin cell tumour which secretes catecholamines

95
Q

what Is primary hyperaldosterone

A

where there is a defect in the adrenal cortex this could be hyperplasia of the cortex or an aldosterone secreting tumour (Conn’s syndrome)

96
Q

what is Conn’s syndrome

A

hyperaldosterone caused by an aldosterone secreting tumour

97
Q

what is secondary hyperaldosterone

A

high aldosterone due to problems with RAAS

98
Q

would renal artery stenosis cause primary or secondary hyperaldosterone

A

secondary

99
Q

what are the symptoms of hyperaldosterone

A

high bp, LV hypertrophy, hypernatraemia, hypokalaemia, stroke

100
Q

what is given to treat hyperaldosterone

A

spironolactone which is a mineralcorticoid antagonist

101
Q

what enzyme is missing in congenital adrenal hyperplasia

A

2,1-hydroxylase

102
Q

what happens in congenital adrenal hyperplasia

A

an enzyme defect meaning that glucocorticoids and mineralcorticoids cant be produced so there are more androgens produced

103
Q

give an example of a synthetic cortisol

A

prednisolone

104
Q

what is cushings syndrome

A

excess cortisol

105
Q

what are the causes of cushings syndrome

A
  • cushing disease = ATCH secreting pituitary adenoma
  • cortisol secreting adrenal tumour
  • non-pituitary adrenal tumour (squamous tumour)
106
Q

what are the symptoms of cushings syndrome

A

fat redistribution to the abdomen, back (buffalo hump), face
thin arms and legs and purple stretch marks due to protein breakdown

107
Q

what is addisons disease

A

cortisol deficiency

108
Q

what are the signs of addisons disease

A

hypotension, weight loss, increased skin pigmentation, hypoglycaemia

109
Q

why do you get increased skin pigmentation in addisons disease

A

ATCH is increasing which comes from the POMC gene which also codes for MSH causing the activation of melanocytes

110
Q

how do you treat addisons disease

A

lifelong treatment of synthetic cortisols

111
Q

what are synthetic cortisols also used to treat

A

inflammatory diseases such as asthma, rheumatoid arthritis

112
Q

what is an addisonian crisis

A

when there is very low cortisol levels causing nausea, vomiting, pyrexia, hypotension

113
Q

what do you give to someone in an addisonian crisis

A

IV fluids and synthetic cortisol

114
Q

what happens in type 1 diabetes

A

autoimmune disease destroying beta cells through auto antibodies

115
Q

what happens in type 2 diabetes

A

there is a reduced sensitivity of the insulin receptors

116
Q

what are the symptoms of type 1 diabetes

A

polyuria, polydipsia, weight loss and tiredness

117
Q

if left untreated what can type one diabetes lead to

A

hyperglycaemia, ketoacidosis, dehydration

118
Q

why does type 1 diabetes lead to ketoacidosis

A

there is a decrease in insulin so less cholesterol is produced and so the acetyl CoA is used to produce ketone bodies instead

119
Q

why does ketoacidosis lead to hyperventilation

A

to try and expel the acidic CO2 to reduce acidity

120
Q

what are the microvascular complications of type 1 diabetes

A

diabetic eye disease, retinopathy, nephropathy, neuropathy, diabetic foot

121
Q

what are the macrovascular complication of type 1 diabetes

A

stroke, MI, poor circulation to peripheries

122
Q

what tests would you use to look for diabetes

A

urine dipstick
HbA1c
smell of acetone
finger prick

123
Q

what is a HbA1c test

A

looks for bound glucose to RBCs which shouldn’t be above 6.5

124
Q

what are the normal glucose levels

A

3.6-6 mmol/L

125
Q

what is the renal threshold for glucose

A

10 mmol/L

126
Q

what is the management for type 1 diabetes

A

insulin, diet and exercise

127
Q

what is the management for type 2 diabetes

A

metformin and sulphonylureas to increase insulin sensitivity
insulin
diet and exercise

Phase 1 - S2 Metabolism, Endocrinology, Haematology (22 decks)

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