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Chem path Flashcards

1
Q

Units for osmolality

A

Mmol/kg

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2
Q

Units for osmolarity

A

mmol/l

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3
Q

Osmolarity calculation

A

2(Na+K) + urea + glucose

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4
Q

Normal range for osmolality

A

275 - 295 mmol/kg

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5
Q

Normal range sodium

A

135 - 145 mmol/l

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6
Q

Symptoms of hyponatraemia, starting with symptoms experienced as Na falls

A

Nausea and vomiting (

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7
Q

What can happen if you correct hyponatraemia too fast? What rate should you aim for?

A

Central pontine myelinosis (pseudobulbar palsy, paraperesis, locked-in syndrome)

Rate: 1mmol/l per hour

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8
Q

Two reasons why hyponatraemia may occur post-surgery?

A

Over hydration with hypotonic IV fluids

Transient increase in ADH due to stress of surgery.

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9
Q

Causes of SIADH

A

Malignancy - small cell lung cancer, pancreas, prostate, lymphoma

CNS disorders - meningoencephalitis, haemorrhage, abscess

Chest - TB, Pneumonia, abscess

Drugs - opiates, SSRIs, carbamazepine

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10
Q

Symptoms of hypernatraemia

A 
Thirst
Confusion
Seizures and ataxia
Coma
Death
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11
Q

Three types of ECF

A

Intravascular
Transcellular
Interstitial

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12
Q

What is the test used in diagnosing Diabetes Insipidus? There are four potential type of results from the test, name them and what you would expect to see.

A

8hr fluid deprivation test

Normal: Urine concentration >600mOsmol/kg

Primary polydipsia: Urine concentrates >400-600mOsmol/kg

Cranial DI: urine concentrates only after giving desmopressin

Nephrogenic DI: zero concentration urine after desmopressin

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13
Q

What is the normal range for potassium? (with units)

A

3.5-5.5mmol/l

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14
Q

Four causes of hypokalaemia?

A 
GI loss
Renal loss (hyperaldosteronism, excess cortisol)
Redistribution into the cells (insulin, beta-agonists, alkalosis)
Rare causes (tutbular acidosis type 1 & 2)
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15
Q

Normal pH range

A

7.35-7.45

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16
Q

normal CO2 range

A

4.7-6kPa

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17
Q

normal bicarbonate range

A

22-30mmol/l

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18
Q

normal O2 range

A

10-13kPa

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19
Q

Anion gap calculation

A

(Na + K) - (Cl + HCO3)

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20
Q

Normal anion gap range

A

14-18 mmol/l

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21
Q

Causes of a metabolic acidosis with elevated anion gap

A

mnemonic KULT

Ketoacidosis (DKA, alcoholic, starvation)
Uraemia (renal failure)
Lactic acidosis
Toxins ( ethylene glycol, methanol, paraldehyde, salicylate)

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22
Q

Osmolar gap calculation

A

Osmolality (measured) - Osmolarity (calculated)

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23
Q

What is the normal osmolar gap?

A
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24
Q

Normal range of AST/ALT

A
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25
Q

What causes AST/ALT (the aminotransferases) to rise?

A

Death of hepatocytes

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26
Q

What condition causes an AST:ALT of 2:1

A

Alcoholic liver disease

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27
Q

What condition causes an AST:ALT of

A

Viral liver disease

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28
Q

What is the normal range of ALP?

A

30-150iu/L

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29
Q

In what conditions does ALP rise?

A

cholestasis (intra/extrahepatic)
Bone disease
Pregnancy

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30
Q

What is the normal range of GGT

A

15-85iu/L men

5-55iu/l women

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31
Q

What causes GGT to rise?

A

chronic alcohol use
bile duct disease
metastases

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32
Q

Acute intermittent porphyria is characterised by what enzyme? Is it raised or low?

A

Porphobilinogen (PBG) deaminase deficiency

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33
Q

What are the symptoms of acute intermittent porphyria?

A 
Abdominal pain
Seizures
Psych disturbances
N+V
Tachycardia
Muscle weakness
NO cutaneous manifestations
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34
Q

What are the 6 Ps of Acute Intermittent Porphyria?

A 
Porphobilinogen deaminase deficiency
Pain in abdomen
Psychological symptoms (anxiety, hallucinations)
Peripheral neuropathy (patchy numbness)
Pee abnormality (dark urine)
Precipitated by drugs (barbiturates, oral contraceptives)
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35
Q

How to diagnose acute intermittent porphyria

A

aminolevulinic acid (ALA) and porphobilinogen (PBG) in the urine

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36
Q

What are the three aspects to interpret in the combined pituitary function test?

A

Insulin Tolerance Test
Thyrotrophin Releasing Hormone Test
Gonadotrophin Releasing Hormone Test

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37
Q

What is an adequate cortisol response in an Insulin Tolerance test?

A

Rise above 550 nmol/l =normal
400-550 =impaired

Rise of less than 170 = Cushing’s syndrome

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38
Q

What is an adequate growth hormone response in an Insulin tolerance test?

A

greater than 6 mcg/l

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39
Q

In primary hypothalamic disease which would be greater in a TRH test? 30min or 60min TSH levels?

A

60min

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40
Q

What hormones are produced from the anterior pituitary?

A

ADH and Oxytocin

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41
Q

In diabetes insipidus, which of the following are raised or low: urine osmolality; serum osmolality.

A

Urine osmolality is decreased

Serum osmolality is raised

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42
Q

Normal range for TSH?

A

0.33-4.5 mu/L

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43
Q

Normal range for free T4?

A

10.2-22.0 pmol/L

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44
Q

normal range of free T3?

A

3.2-6.5 pmol/L

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45
Q

Raised TSH, Low T4

A

Hypothyroidism

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46
Q

Raised TSH, normal T4

A

Treated hypothyroidism/subclinical hypothyroidism

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47
Q

Raised TSH, raised T4

A

TSH secreting tumour or thyroid hormone resistance

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48
Q

Low TSH, raised T4 or T3

A

Hyperthyroidism

49
Q

Low TSH, normal T3 and T4

A

Subclinical hyperthyroidism

50
Q

Low TSH, Low T4

A

Central hypothyroidism (hypothalamic/pituitary disorder)

51
Q

Raised (then later low) TSH, low T3 and low T4

A

Sick euthyroidism (with any severe illness)

52
Q

Normal TSH, abnormal T4

A

?assay interference
TBG changes
amiodarone

53
Q

Which thyroid conditions on an isotope scan will have ‘high uptake’?

A

Graves
Toxic multinodular goitre
Toxic adenoma

54
Q

Which thyroid conditions will have low uptake on an isotope scan?

A

Subacute DeQuervains thyroiditis

Postpartum thyroiditis

55
Q

Which thryoid condition has a ‘hot nodule’ on an isotope scan?

A

Toxic adenoma

56
Q

Which thyroid condition is a self-limiting, post-viral painful goitre?

A

Subacute DeQuervains thyroiditis

57
Q

Name two autoimmune forms of hypothyroidism

A

Primary atrophic hypothyroidism

Hashimotos thyroiditis

58
Q

‘Diffuse lymphocytic infiltration, atrophy and no goitre’ describes which thyroid condition?

A

Primary atrophic hypothyroidism

59
Q

‘Plasma cell infiltration and a goitre’ describes which thyroid condition?

A

Hashimotos thyroiditis

60
Q

In general how would you treat low uptake hyperthyroid conditions?

A

Symptomatically

beta-blockers

61
Q

In general, how would you treat high uptake hyperthyroid conditions?

A

betablockers
antithyroid therapy
carbimazole

62
Q

Name 5 different categories of Thyroid neoplasias

A 
Papillary
Follicular
Medullary
Lymphoma
Anaplastic
63
Q

What causes a phaeochromocytoma?

A

Adrenal medulla tumour leading to increased adrenaline

64
Q

Signs and symptoms of Cushing’s?

A 
Moon face
Buffalo hump
Striae
Acne
Hypertension
Diabetes
Proximal myopathy
Hirsutism
65
Q

Signs and symptoms of Addison’s?

A 
Raised potassium
Low sodium
Low glucose
Postural hypotension
Skin pigmentation
Lethargy
Depression
66
Q

Signs and symptoms of Conn’s?

A

Raised sodium
Low potassium
Uncontrollable hypertension

67
Q

Signs and symptoms of a phaeochromocytoma?

A 
Headache
Flank Pain
Tachycardia
Palpitations
Paroxysmal Hypertension (sporadic/episodic)
Orthostatic Hypotension
Diaphoresis (excessive sweating)
Elevated glucose
DEATH
68
Q

Investigation for Cushing’s?

A

Low dose dexamethasone (0.5mg)
High dose dexamethasone (2mg)
ACTH levels

69
Q

Investigations for Addison’s?

A

SynACTHen test

70
Q

Investigations for Conn’s?

A

Aldosterone:Renin ratio will be raised

To diagnose: saline suppresion test; ambulatory salt loading test; or fludrocortisone test.

71
Q

Investigations for a phaeochromocytoma?

A

plasma and 24hr urinary metaadrenaline measurement + catecholamines

72
Q

Normal plasma range of calcium?

A

2.2-2.6mmol/l

73
Q

What four effects does PTH have in relation to calcium?

A

1) increased 1alpha hydroxylation of VitD
2) mobilises calcium from bone
3) increased renal calcium reabsorption
4) increased renal phosphate excretion

74
Q

What effects does calcitriol have on bone and calcium?

A

Increased calcium and phosphate absorption from the gut

Bone remodelling

75
Q 
Ca - raised
PO4 - low
PTH - raised/normal
Alk Phos - raised/normal
Vit D - normal
A

Primary hyperparathyroidism

76
Q 
Ca - low/normal
PO4 - raised
PTH - raised
Alk Phos - raised
Vit D - normal
A

Secondary hyperparathyroidism

77
Q 
Ca - raised
PO4 - low
PTH - raised
Alk Phos - raised/normal
Vit D - normal
A

Tertiary hyperparathyroidism

78
Q 
Ca - low
PO4 - raised
PTH - low
Alk Phos - low/normal 
Vit D - normal
A

hypoparathyroidism

79
Q 
Ca - low
PO4 - low
PTH - raised
Alk Phos - raised
Vit D - low
A

Ricket’s/ostseomalacia

80
Q 
Ca - normal 
PO4 - normal
PTH - normal 
Alk Phos - raised
Vit D - normal
A

Paget’s disease

81
Q 
Ca - normal
PO4 - normal
PTH - normal
Alk Phos - normal
Vit D - normal
A

Osteoporosis

82
Q

Symptoms of hypercalcaemia

A 
Stones (renal)
Bones (pain)
Groans (psych)
Moans (abdo pain)
Polyuria
Muscle weakness
83
Q

In general how do you approach treating hypercalcaemia?

A

Correct dehydration
Bisphosphonates
Correct the cause

84
Q

Symptoms of hypocalcaemia

A

Perioral paraesthesia
Carpopedal spasm
Neuromuscular excitability - Trousseau’s and Chvostek’s signs.

85
Q

What is Trousseau’s sign and what condition is it associated with?

A

After inflating a BP cuff above systolic pressure on the patient’s arm will induce spasm of the hand/forearm.

Associated with hypocalcaemia.

86
Q

What is Chvostek’s sign and what condition is it associated with?

A

Tapping the facial nerve at the angle of the jaw will induce muscle twitch on that side of the face.

It is associated with hypocalcaemia.

87
Q

What acute condition is associated with high serum amylase?

A

Acute pancreatitis

88
Q

In what pathology will Creatine Kinase be raised?

A

Duchenne Muscular Dystrophy
Myocardial Infarction
Rhabdomyolysis

89
Q

In who may Creatine Kinase be physiologically raised?

A

Afro-Caribbeans

90
Q

In who may ALP be raised physiologically?

A

Pregnant women

Children during growth spurts

91
Q

In what pathologies may ALP be raised?

A

BONE: Pagets; osteomalacia (less raised: tumours, fractures, osteomyelitis)
LIVER: Cholestasis; Cirrhosis (less raised: infiltrative disease, hepatitis)

92
Q

What is Troponin a marker of and when should it be measured?

A

myocardial injury biomarker

Measure at 6 hours then at 12 hours post-onset of chest pain

93
Q

What type of protein is CRP, what is its time frame and what sort of concentration you expect to see in a normal person.

A

Acute phase protein
~6-8 hours after tissue damaage, peaking around 24 hours
serum conc. of around 5-10mg/L

94
Q

What enzyme is deficient in Wilson’s disease?

A

Caeruloplasmin

95
Q

What protein is associated with Prostate Cancer?

96
Q

What protein is associated with Hepatic Cancer?

97
Q

What protein is associated with Pancreatic Masses?

98
Q

What protein is associated with Ovarian Cancer/Pelvic Masses?

99
Q

What protein is associated with Colorectal Cancer?

100
Q

What protein is associated with Gestational Trophoblastic Disease?

101
Q

PSA is a tumour marker of what?

A

Prostate Cancer

102
Q

AFP is a tumour marker of what?

A

Hepatic Cancer

103
Q

CA19-9 is a tumour marker of what?

A

Pancreatic masses

104
Q

CA125 is a tumour marker of what?

A

ovarian cancer/pelvic masses

105
Q

CEA is a tumour marker of what?

A

Colorectal Cancer

106
Q

beta HCG is a tumour marker of what?

A

Gestational Trophoblastic Disease

107
Q

Phenylketonuria is caused by what pathology? How do we screen for this condition?

A

Phenylalanine hydroxylase deficiency

Screen using the guthrie test

108
Q

Which six inherited metabolic diseases are newborns screened for? What other three conditions are newborns screened for?

A 
PKU - Phenylketonuria
MCADD - Medium-chain acyl-CoA dehydrogenase deficiency
MSUD - Maple syrup urine disease
IVA - isovaleric acidaemia
GA1 - glutaric aciduria type 1
HCU - homocystinuria

Also: sickle cell; cystic fibrosis; congenital hypothyroidism

109
Q

Galactosaemia Type 1 is associated with what enzyme deficiency?

A

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

110
Q

Galactosaemia Type 2 is associated with what enzyme deficiency?

A

Galactokinase

111
Q

Galactosaemia Type 3 is associated with what enzyme deficiency?

A

UDP galactose epimerase

112
Q

How and when can Barth syndrome present?

A

From birth

Cardiomyopathy (dilated or hypertrophic)
Neutropenia (chronic, cyclic or intermittent)
Myopathy

113
Q

What does MELAS stand for? What is the pathology? How and when does it present?

A

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke like episodes.

Defective mitochondrial genome

Presents in childhood after a period of normal development.

Muscle weakness, vomiting, stroke-like episodes

114
Q

What is the pathology of Kearns-Sayre syndrome?

When and how does it usually present?

A

Mitochondrial disorder

Before the age of 20.

Unilateral ptosis that worsens resulting in the person extending their neck to see.
Later, reduced eye movements leading to movement of the head to see the peripheries.
Retinopathy - “salt and pepper”
Cardiopathy - AV block

115
Q

What result on an oral glucose tolerance test is classified as diabetes?

A

> 11.1 mmol/l 2-hours after the test

116
Q

What result on an oral glucose tolerance test is classified as an impaired glucose tolerance?

A

Between 7.8-11.1 mmol/l 2 hours after the test.

117
Q

To diagnose diabetes what result do you expect on a fasting plasma glucose?

118
Q

Impaired fasting glycaemia is indicated by what fasting plasma glucose result?

A

A value between 6.1-7.0mmol/l

Pathology (5 decks)

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