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Clinical Pathology > Core Clinical Biochemistry > Flashcards

Core Clinical Biochemistry Flashcards

1
Q

endocrine gland

A

secrete hormones into blood stream and act systemically

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2
Q

paracrine gland

A

hormones act locally

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3
Q

autocrine

A

cell secreting the protein

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4
Q

What are the most common primary pituitary tumours

A

adenomas
clinical effect secondary to hormone produced
local effects to pressure on optic chiasm or adjacent pituitary

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5
Q

what are the types of anterior pituitary adenoma?

A

Prolactinoma
growth hormone secreting
ACTH secreting

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6
Q

Prolactinoma

A

most common

galactorrhoea and menstrual disturbance

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7
Q

growth hormone secreting

A

gigantism in children

acromegaly in adults

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8
Q

ACTH secreting

A

cushing’s syndrome

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9
Q

what is Hashimoto’s?

A

chronic lymphocyte thyroiditis
autoimmune chronic inflammatory disorder
females > males

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10
Q

are the serum antibodies high or low in Hashimoto’s?

A

high

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11
Q

what does Hashimoto’s increase the risk of?

A

thyroid lymphoma

papillary carcinoma

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12
Q

What is graves disease?

A

autoimmune disease

clinical hyperthyroidism

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13
Q

what is the most common cause of hyperthyroidism

A

graves disease

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14
Q

what are the signs of hyperthyroidism?

A

hair loss, proptosis, tachycardia, hyperactive reflexes

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15
Q

What are the thyroid antigens like in Graves disease??

A

T3 and T4 elevated

TSH markedly suppressed

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16
Q

what is a multinodular goitre?

A

enlargement of thyroid with varying degrees of nodularity

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17
Q

Associated features of multinodular goitre

A

tracheal compression or dysphagia may develop with large nodules

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18
Q

what is follicular adenoma?

A

encapsulated tumour with evidence of follicular cell differentiation

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19
Q

who gets follicular adenoma?

A

females > males

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20
Q

how does follicular adenoma present?

A

painless neck mass

solitary nodule - 1 lobe

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21
Q

what is the most common malignant tumour of the thyroid?

A

thyroid carcinoma

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22
Q

which is the most common type of thyroid carcinoma?

A

papillary carcinoma

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23
Q

causes of papillary carcinoma

A 
familial - autosomal dominant non-medullary thyroid carcinoma 
FAP 
Cowden's syndrome
therapeutic irradiation 
radiation exposure
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24
Q

genetic abnormalities in papillary carcinoma?

A

RET or NTRK1
BRAF V600E mutation
RAS mutation

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25
What is follicular carcinoma
10-20% all thyroid cancers
26
How do most follicular carcinomas present?
90% present with solitary nodule in thyroid | 10% distant mets
27
what is primary hyperparathryroidism
excessive secretion of parathyroid hormone from one or more glands
28
what is secondary hyperparathyroidism
hyperplasia of glands with elevated PTH in response to hypocalcaemia - renal insufficiency, malabsorption, vit D deficiency
29
aetiology of primary hyperparathyroidism
aging tumorigenesis in general ionizing radiation male
30
clinical features of PHPT
``` asymptomatic arterial hypertension psychiatric hypercalcaemia decreased renal function osteoporosis hypercalcaemia ```
31
most common cause of PHPT
adenoma
32
causes of SHPT
non-neoplastic increase in parathyroid paranchymal cell mass
33
what patients is SHPT common in
renal failure
34
what is cushing's syndrome?
prolonged cortisol exposure
35
exogenous causes of cushing's
excessive gluticocorticoids
36
endogenous causes of Cushing's
adrenal cortical tumours adrenal cortical hyperplasia ACTH secreting pituitary adenoma small cell lung carcinoma
37
sign's and symptoms of cushing's
``` moon face high BP central obesity weak muscles and bone excess sweating mood swings headaches chronic fatigue women increased hair growth ```
38
what is conn's syndrome
primary hyperaldosteronism | leads to low renin
39
causes of conn's syndrome?
adrenal cortical hyperplasia adenoma familial hyperaldosteronism
40
sign's and symptoms of Conn's syndrome
high BP muscle weakness muscle spasms excessive urination
41
what is Addison's disease?
primary adrenal cortical insufficiency
42
what causes Addison's disease?
adrenal dysgenesis | adrenal destruction
43
clinical features of Addison's disease
triad of hyperpigmentation, postural hypertension, hyponatraemia
44
treatment for Addison's disease
long term steroid replacement
45
what is phaeochromocytoma
catecholamine-secreting tumour arising from adrenal medulla
46
what are the symptoms of phaeochromocytoma
hypertension, palpitations, headaches, anxiety
47
what is the normal blood glucose level
5mmol/L
48
group of hormones that increase blood glucose
glucagon adrenaline growth hormone cortisol
49
where is glucagon produced
alpha cells
50
what does adrenaline and growth hormone do?
stimulate glycogenolysis | stimulate lipolysis
51
what does cortisol do?
stimulate gluconeogenesis increase glycogen sythesis stimulate proteolysis reduce tissue glucose use
52
what is hypoglycaemia
less than 4
53
what is hyperglycaemia
greater than 11mmol/l
54
symptoms of diabetes
thirst, polyuria, weight loss, tiredness
55
signs of diabetes
dry mouth, weight loss, glycosuria, hyperglycaemia
56
Diagnosis of diabetes
``` typical symptoms and random plasma glucose >11.1mmol/L fasting plasma glucose >7.0mmol/L 2hr post load plasma glucose >11.1 mmol/L during 75g oral glucose tolerance test HbA1c >48 mmol/mol ```
57
glucose tolerance test
oral or IV
58
OGTT
fasting plasma glucose 75g oral glucose load plasma glucose at intervals and at 2 hours post glucose load interpretation: fasting: normal <6.1mmol/L, diabetic >7mmol/L 2 hour post glucose load: normal <7.8mmol/L, diabetic >11.1 mmol/L
59
what is borderline diabetes?
impaired fasting glucose >6.1mmol/L impaired glucose tolerance: 2 hour post-glucose load plasma glucose >7.8 and <11.1 mmol/L HbA1c 42-47 mmol/mol
60
Investigations in diabetes
``` HbA1C renal function liver function lipids thyroid function ```
61
diagnosis of gestational diabetes
75g 2 hour OGTT fasting plasma glucose >5.6mmol/L 2 hour post-glucose load plasma glucose >7.8mmol/L
62
insulin dependent diabetes mellitus
autoimmune destruction of beta cells insulin deficient usually young but can be any age
63
autoantibody tests for DM1
ICA, IA2 GAD
64
Type 2 diabetes
insulin resistant/ deficient often obese/ overweight usually hypertensive and hyperlipidaemic
65
gestational diabetes
arising or diagnosed in pregnancy | resolves after pregnancy
66
secondary DM
``` chronic or acute pancreatits calcific, tropical pancreatitis pancrectomy pancreatic cancer cystic fibrosis haemachromotosis ```
67
what is haemachromotosis
hereditary iron overload storage disorder
68
what does calcium do in the body
``` muscle contraction neuronal excitation enzyme activity blood clotting the key mineral in bone ```
69
what does phosphate do in the body
``` ATP intracellular signalling metabolic processes e.g. glycolysis backbone of DNA cembrane phospholipids ```
70
what does magnesium do in the body
``` cofactor for ATP neuromuscular excitation enzymatic funtuin regulates ion channels bone matrix ```
71
cause of increase/ decrease
intake storage excretion/ loss tissue redistribution
72
controlling factors of calcium
parathyroid hormone vitamin D and metabolites
73
normal calcium range
2.2-2.6mmol/L
74
total calcium =
ionised Ca + bound Ca + complexed Ca
75
what is ionised calcium
physiologically active fraction
76
what is bound calcium
physiologically inactive | albumin main binding protein
77
what is adjusted calcium
corrected for changes in albumin | patient samples adjusted for better diagnostic performance
78
what effect does acidosis have on bound calcium
reduces bound Ca
79
what effect does alkalosis have on bound calcium
increases bound calcium
80
what does affect of reducing binding protein have on total calcium
reduce total calcium
81
parathyroid glands produce which hormone
PTH
82
what does PTH do
stimulate bone - increase Ca turnover, GI - vit D increases Ca absorption, kidney - decrease Ca clearance to release calcium
83
what does calcium stimulate
parathyroid to stop producing PTH
84
what are the symptoms of hypercalcaemia?
bones - bone aches and pains stones - kidney stones moans - GI conditions groans - psychological conditions
85
what can phosphate deficiency cause?
weakness and dysfunction haemolysis, thrombocytopenia, poor granulocyte formation confusion irritability and coma
86
how much calcium do the bones store?
25 Mol - 99%
87
which organ helps regulate calcium and phosphate levels?
kidney
88
which organs regulate magnesium?
gut bones (60%) intracellular space in muscles kidney
89
at what point is Calcium levels a medical emergency?
>3.5mmol/L or <1.6mmol/L
90
what is the composition of bone
cortical bone - outer layer trabecular bone - spongy, inner cells - bone forming and bone resorbing cells Extracellular - organic matrix mainly collagen, inorganic components e.g. minerals
91
what do osteoblasts do?
make osteoid - type 1 collagen mainly make hormones - alkaline phosphatase prerequisite for mineralisation
92
what are osteoblasts that are trapped within the matrix called?
osteocytes
93
what are osteoclasts?
break down bone repair and maintenance produce TRAP and Cathepsin K enzymes which breakdown extracellular matrix
94
how are osteoclasts regulated?
PTH, calcitonin, IL-6
95
what do osteocytes do?
regulating bone matrix turnover
96
what is the bone cycle
resting resorption osteoid formation mineralisation
97
what enzyme mineralises bone
hydroxyapatite enzyme
98
how is bone disease investigated
X-Ray Bone Mass - DEXA cellular function - biochemistry Microstructure - biopsy, qCT
99
biochemical markers of bone formation
alkaline phosphatase osteocalcin procollagen type I peptides
100
Biochemical markers of bone resorption
hydroxyproline crosslinked telopeptides of type I collagen tartrate-resistant acid phosphatase cathepsin K
101
ALP
health: 50% liver 50% bone
102
bone alkaline phosphatase
released by osteoblasts stimulated by increased bone remodelling e.g. hyperparathyroidism Pagets
103
what synthesises procollagen type 1N propeptide?
osteoblasts
104
when are collagen cross-links increased
high bone turnover diurnal variation do not predict bone mineral density
105
uses of bone markers
evaluation of bone turnover and bone loss evaluation of treatment evaluation of compliance with medicine e.g. P1NP monitor compliance with teriparatide
106
what does a T-score of -1 and above mean
bone density normal
107
T-score -1 - -2.5
osteopenia
108
T-score
osteoporosis
109
describe osteoporosis
loss of bone with propensity to fractures | no routine abnormalities in routine biochemical tests
110
diagnosis of osteoporosis
DEXA/ X-ray
111
common sites of fracture in osteoporosis
spine NOF wrist
112
investigation for 2nd causes of osteoporosis
``` calcium and bone profile U&Es TFTs FBC Vit D PTH plasma viscosity coeliac screen ```
113
treatment options for osteoporosis
antiresorptive treatments | anabolic treatments
114
bisphosphonates what do they do?
inhibit osteoclast formation - promote apoptosis
115
side effects of bisphosphonates
oesophageal upper GI problems flu-like osteonecrosis of jaw atypical femur fractures
116
What are lytic bone mets
destruction of normal bone
117
which cancers are lytic bone mets seen in
breast/ lung/ kidney/ thyroid
118
what are sclerotic/ osteoblastic mets
deposition of new bone
119
where are sclerotic mets seen
prostate lymphoma breast lung
120
usual sites of bone mets
spine, pelvis, femur, humerus, skull
121
presenting symptoms of bone mets
``` pain broken bones numbness, paralysis, trouble urinating loss of appetite, nausea, thirst, confusion, fatigue anaemia - disruption of bone marrow ```
122
primary hyperparathyroidism blood results
High Ca PTH: innapropriately high low phosphate and high alk phos sporadic or familial
123
secondary hyperparathyroidism blood results
normal or low Ca PTH: appropriately high phosphate high if CKD CKD or Vit D deficiency
124
PHPT presentation
now much earlier and asyptomatic | used to be hypercalcaemia and renal and skeletal disease
125
PTHT causes
adenomas - 85% cases | glandular hyperplasia - 6-10%
126
clinical manifestations of PHPT
renal disease - nephrolithiasis, chronic kidney disease bone disease - osteoporosis proximal muscle wasting
127
what is Paget's disease
rapid bone turnover and formation leading to abnormal bone remodelling
128
which age group - pagets
over 50
129
what elevated bone marker would you see
alkaline phosphatase
130
clinical features of Pagets?
``` bone pain bone deformity fractures arthritis cranial nerve defects risk of osteosarcoma ```
131
what is osteomalacia?
lack of mineralisation of bone
132
causes of osteomalacia
insufficient calcium absorption from gut due to dietary insufficiency or vit D deficiency excessive renal phosphate excretion
133
alkaline phospatase is increased in all bone disorders except..
osteoporosis

Clinical Pathology (8 decks)

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