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..Pathology- Imperial College London MBBS > Chemical Pathology > Flashcards

Chemical Pathology Flashcards

1
Q

Which cycle forms ammonia?

A

Urea cycle

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2
Q

Name three urea cycle defects:

A
  1. Lysinuric protein intolerance
  2. Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH)
  3. Citrullinemia type III.
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3
Q

What is the inheritance pattern of Ornithine Transcarboxylase Deficiency?

A

X-linked

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4
Q

What serum marker is a marker of hyperammoniaemia?

A

Serum glutamine

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5
Q

What urine marker is a marker of hyperammoniaemia?

A

Urine orotic acid

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6
Q

What is the first line management for hyperammoniaemia?

A

Sodium benzoate

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7
Q

Which acid-base disorder is associated with raised ammonia?

A

Respiratory alkalosis

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8
Q

Why is hyperammoniaemia associated with respiratory alkalosis?

A

Induces hyperventilation of the central respiratory drive

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9
Q

What are the features of a urea cycle disorder?

A
  • Vomiting without diarrhoea
  • Respiratory alkalosis – Hyperammonaemia induces hyperventilation of the central respiratory drive.
  • Neurological encephalopathy
  • Avoidance or change in diet.
  • Hyperammonaemia - >200 uM.
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10
Q

Name a common organic aciduria

A

Isovaleric Acidaemia

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11
Q

What type of smell is associated with Isovaleric Acidaemia (urine)

A

Cheesy or sweaty smell

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12
Q

How is leucine exported from the cell?

A

Isovaleryl carnitine

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13
Q

What is the neonatal presentation of an organic aciduria?

A
  • Unusual odour
  • Truncal hypotonia
  • Hypocalcaemia
  • Pancytopenia
  • Lethargy
  • Limb hypertonia
  • Neutropenia
  • Feeding problems
  • Myoclonic jerks
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14
Q

What is the trigger of Reye’s syndrome?

A

salicylates (aspirin)

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15
Q

What is the presentation of Reye’s syndrome?

A
  • Vomiting, lethargy
  • Increasing confusion, seizures
  • Decerebration
  • Respiratory arrest
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16
Q

When is the Guthrie spot test performed?

A

At 5-6 days ofa ge

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17
Q

What five conditions are screened in the Guthrie spot test?

A

Phenylketonuria
Congenital hypothyroidism
Cystic fibrosis
Sickle cell anaemia
MCAD deficiency

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18
Q

Which enzyme is deficiency in phenylketonuria?

A

Phenylalanine hydroxylase

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19
Q

How is phenylketonuria screened

A

Phenylalanine levels

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20
Q

How is congenital hypothyroidism screened?

A

TSH levels

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21
Q

What is the commonest mutation associated with cystic fibrosis?

A

F508del CFTR

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22
Q

Which test is used to screen for cystic fibrosis at 5 days of age?

A

Immune reactive trypsin

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23
Q

What screening test is performed for diagnosing MCAD?

A

Acylcarnitine

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24
Q

Phenylketonuria results in an accumulation of what?

A

phenylalanine

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25
Q

What are the clinical features associated with phenylketonuria?

A

Low IQ <50
Delayed developmental milestones, microcephaly, hypopigmentation, hyperactivity, seizures and musty odour to skin and urine

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26
Q

What is the chronic management for phenylketonuria?

A

Low Phe and adequate tyrosine intake

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27
Q

What is the consequence of mitochondrial fatty-acid beta oxidation?

A

Hypoketotic hypoglycaemia

+ hepatomegaly and cardiomegaly

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28
Q

What are the three types of ketones?

A

Acetone, acetoacetate, 3-hydroxybutryate.

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29
Q

Galactosaemia is characterised by a deficiency of which enzyme?

A

galactose-1-phosphate uridyl transferase (GALT)

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30
Q

Galactosaemia is characterised by what raised serum marker?

A

Raised Gal-1 phosphate and galactose

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31
Q

Gal-1-phosphate is a substrate for which ocular molecule?

A

Aldolase

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32
Q

High concentrations of Gal-1-phosphate can result in what ocular complications?

A

Bilateral cataracts

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33
Q

What is the investigation of choice for diagnosing galactosaemia?

A
  • Urinary galactose
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34
Q

Management of galactosaemia?

A

Avoid galactose sources e.g., milk

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35
Q

Type 1 glycogen-storage disease is associated with which enzyme deficiency?

A

Glucose-6-phosphatase

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36
Q

What is the clinical presentation of glycogen storage disease?

A
  • Hypoglycaemia
  • Hepatomegaly
  • Lactic acidosis
  • Exercise intolerance
  • Protruding abdomen
  • Faltering growth, growth failure, short stature, and thin legs
  • Weakness
  • Neutropenia – Recurrent bacterial infection in GSD1b (Impaired neutrophil homeostasis).
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37
Q

GSD1 causes what type of hypoglycaemia?

A

Hypoketotic due to inhibition of fatty acid oxidation by malonic acid

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38
Q

What is the the management of GSD type 1?

A

Nocturnal intragastric glucose feedings during the first 2 years of life, and appropriate carbohydrate intake to maintain satisfactory blood glucose.

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39
Q

What is Von Gierke Disease

A

Glycogen storage disease type 1

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40
Q

What is the underlying pathogenesis of GSD-type 1?

A

Absence of phosphatase – G6P and G1P cannot be exported (phosphate cannot across cell membrane).
* Glucose-6-phosphate transport and hydrolysis requires a catalytic hydrolase – GSD is marked by G6Pase deficiency.
* Leads to progressive glycogen accumulation in the liver, and fasting hypoglycaemia due to impaired export.

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41
Q

What is the inheritance pattern for GSD-TYPE 1?

A

Autosomal recessive

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42
Q

What is the inheritance pattern of MCAD?

A

Autosomal recessive disorder affecting mitochondria fatty acid beta-oxidation

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43
Q

MCAD converts medium-chain fatty acyl-CoA into what two products?

A

short-chain fatty acyl-CoA and acetylCoA

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44
Q

What pathway does medium-chain acyl-CoA dehydrogenase play in during the fasting state?

A

Ketogenesis

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45
Q

What type of hypoglycaemia is caused by MCAD?

A

Hypoketotic hypoglycaemia.

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46
Q

When are symptoms of MCAD deficiency evident?

A

neonatal period between 3 and 15 months after a period of fasting or acute illness

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47
Q

How is MCAD deficiency detected on newborn blood screening?

A

Elevated acylcarnitine

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48
Q

Which genetic test confirms the diagnosis of MCAD deficiency?

A

Homozygous 985A

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49
Q

What is the management for MCAD deficiency?

A

Reducing times of fasting and ensuring nutrition intake to meet metabolic demands + high carbohydrate diet.

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50
Q

Zellweger spectrum disorder is associated with an absence or reduction of what?

A

Functional peroxisomes

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51
Q

Which gene is implicated in Zellweger Spectrum Disorder?

A

PEX gene

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52
Q

What is the neonatal presentation of Zellweger Spectrum Disorder ?

A
  • Hypotonia (floppy baby)
  • Reduced spontaneous movements and weak cry.
  • Feeding difficulty
  • Seizure
  • Craniofacial abnormalities – facial dysmorphisms, large fontanelles, wide sutures, hypoplastic supraorbital ridges.
  • Retinopathy – early blindness.
  • Sensorineural deafness
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53
Q

Which type of disorders cause nipple inversion and retardation?

A

Glycosylation disorders

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54
Q

Tay-Sachs disease is caused by a deficiency of what enzyme?

A

hexosaminidase-A

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55
Q

Which ethnicity is associated with Tay-Sacs disease?

A

Ashkenazi Jewish Heritage

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56
Q

What is the inheritance pattern for Tay-Sachs disease?

A

Autosomal recessive

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57
Q

What characteristic retinal finding is seen in Tay-Sachs disease?

A

Cherry red spot

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58
Q

What is the clinical presentation of Tay-Sachs disease?

A

A degenerative disease of grey matter in infancy – symptoms arise between 3-6 months (very slow progressing).
* Mild motor weakness
* Irritability
* Hypersensitivity to auditory and sensory stimuli
* Exaggerated startle response (auditory myoclonus)
* Neuroregression.
* Hepatosplenomegaly
* Cardiomyopathy

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59
Q

What is the investigation performed for Tay-sachs disease?

A

Urine mucolipopolysaccharides and WBC enzyme levels.

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60
Q

What is the management for Tay-Sachs disease?

A

Enzyme replacement therapy; substrate reduction therapy, and bone marrow transplantation.

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61
Q

What is the 60-40-20 rule regarding the distribution of water?

A

60% - total body weight
40% - intracellular
20% extracellular

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62
Q

Concentrations of sodium and chloride are raised in which compartment?

A

Extracellular

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63
Q

What term denotes the total number of particles in solution?

A

Osmolality

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64
Q

What is the units for osmolality?

A

mmol/Kg

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65
Q

What are the unites for osmolarity?

A

mmol/L

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66
Q

What are the physiological determinants of osmolality?

A

Na+ + K+ + HCO3- + Urea + Glucose.

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67
Q

What is the calculation for osmolarity?

A

2 (Na+ + K+) + urea and glucose.

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68
Q

What is the normal range for osmolality?

A

275 – 295 mmol/kg.

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69
Q

if the osmolarity < osmolality, what should be assumed?

A

There are additional unmeasured solutes that are dissolved in the serum

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70
Q

What is the normal range of sodium?

A

135-145 mmol/L

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71
Q

What is the threshold for severe hyponatraemia?

A

<125 mmol/L

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72
Q

What are the clinical presentations of symptomatic hyponatraemia?

A

o Nausea and vomiting (<134 mmol/L)
o Confusion (<131 mmol/L)
o Seizures, non-cardiogenic pulmonary oedema (<125 mmol/L)
o Coma (<117 mmol/L) and eventual death.

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73
Q

What are the causes of high osmolality?

A

Glucose/mannitol infusion

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74
Q

What term describes hyponatraemia caused by irrigation absorbed through damaged prostate?

A

TURP syndrome

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75
Q

What is the osmolality associated with pseudohyponatraemia?

A

Normal/high

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76
Q

What are the three classifications of true hyponatraemia?

A

Hypervolaemia

Euvolaemic

Hypovolaemic

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77
Q

What are the renal hypovolaemic causes of hyponatraemia?

A

Diuretics, Addison’s, salt-losing nephropathies

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78
Q

How can hyponatraemia be distinguished?

A

By hydration status and urinary Na+

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79
Q

What determines renal versus non-renal causes of hyponatraemia?

A

Urinary sodium >20 = renal cause

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80
Q

what are the non-renal causes of hypovolaemic hyponatraemia?

A

Vomiting, diarrhoea, excess sweating, third space losses (ascites, burns)

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81
Q

What are the evuolaemic causes of hyponatraemia?

A

SIADH

Severe hypothyroidism

Glucocorticoid deficiency

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82
Q

What are the hypervolaemic causes of true hyponatraemia?

A

AKI,CKD, cardiac failure, cirrhosis, inappropriate iv fluid

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83
Q

Which CAH is associated with salt-loss?

A

21-hydroxylase deficiency

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84
Q

21-hydroxylase deficiency is associated with a reduction in which two hormones?

A

Cortisol and aldosterone

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85
Q

21-hydroxylase deficiency causes an accumulation of what?

A

17-OH-progesterone

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86
Q

What are the clinical features associated with true hyponatraemia?

A

o Hyponatremia/hyperkalaemia with volume depletion (lack of aldosterone)  Salt-losing crisis.
o Hypoglycaemia (lack of cortisol)
o Ambiguous genital in female neonates
o Growth acceleration

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87
Q

Why is cirrhosis associated with hyponatraemai?

A

Liver failure causes an impaired breakdown of vasodilators (nitric oxide) - low BP causes a rise in ADH - water retention - dilutional effect on sodium

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88
Q

Which marker is raised in heart failure and exacerbates hyponatraemia?

A

ADH

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89
Q

What is the management for hypovolaemic hyponatraemia?

A

Manage cause - e.g., anti-emetics

Replace depleted fluid with regular sodium monitoring

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90
Q

How is Addison’s managed?

A

Hydrocortisone +/- Fludrocortisone.

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91
Q

What is the first-line drug for status epilepticus secondary to hyponatraemia?

A

Hypertonic saline

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92
Q

What is the consequence associated with rapid correction of sodium?

A

Central pontine myelinolysis

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93
Q

What is the presentation of central pontine myelinolysis?

A

pseudobulbar palsy, paraparesis, locked-in syndrom

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94
Q

What is the 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.
  • Clinically euvolemic.
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95
Q

Which test confirms SIADH?

A
  • Normal 9am cortisol and normal TFTs (I.E diagnosis of exclusion).
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96
Q

Which malignancy is associated with SIADH?

A

Small cell lung cancer (most common); prostate, pancreas, lymphoma (ectopic secretion)

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97
Q

Which drugs can cause SIADH?

A

Opiates, SSRIs, TCAs, carbamazepine, PPIs.

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98
Q

what is the management for siadh?

A

Fluid restriction and manage the cause

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99
Q

Which drug can be used to increase ADH resistance for the management of SIADH?

A
  • Demeclocycline and tolvaptan
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100
Q

What is the the range threshold for hypernatraemia?

A

> 148 mmol/L

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101
Q

What is the presentation of hypernatraemia?

A
  • Sensation of thirst is driven by hypernatremia – self-correction of sodium.
  • Thirst  Confusion  Seizures + ataxia  Coma
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102
Q

What are hypovolaemic causes of hypernatraemai?

A
  • Loop diuretics
  • Osmotic diuresis (uncontrolled DM, glucose, mannitol), following initial hyponatraemia.
  • Diabetes insipidus
  • Renal disease (impaired concentrating ability).
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103
Q

Which endocrine disorder is associated with hypernatraemia?

A

Conns’s syndrome

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104
Q

Which electrolyte imbalance is associated with Diabetes insipidus?

A

Hypernatraemia

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105
Q

What is the management for cranial diabetes insipidus?

A

Desmopressin

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106
Q

Cranial diabetes insipidus is caused by what?

A

Surgery, trauma, tumours (craniopharyngioma), autoimmune hypophysitis (from CTLA-4 ipilimumab).

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107
Q

What is the diagnostic investigation for diabetes insipidus?

A

8-hour water deprivation test

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108
Q

What type of diabetes insipidus is characterised by insensitivity to ADH?

A

Nephrogenic diabetes insipidus (vasopressin receptor resistance0

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109
Q

Following administration of desmopressin, what result is observed on a water deprivation test for cranial diabetes insipidus?

A

Urine osmolality increases to >600 mOsmol/kg

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110
Q

What is the normal range for potassium?

A

3.5-5.5 mmol/L

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111
Q

What is the predominant intracellular ion?

A

Potassium

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112
Q

What is the threshold concentration for hypokalaemia?

A

<3.5 mmol/L

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113
Q

What are the renal loss causes of hypokalaemia?

A
  • Hyperaldosterism (Patient with high BP and low K+); iatrogenic excess of cortisol (increased potassium secretion).
  • Increased sodium delivery to the distal nephron (thiazide and loop diuretics).
  • Osmotic diuresis
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114
Q

What i the management of nephrogenic diabetes insipidus?

A

Thiazide diuretics

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115
Q

Which drugs can cause nephrogenic diabetes insipidus?

A

Lithium, demeclocyline

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116
Q

Which drug can cause hypokalaemia?

A

Beta-agonists

Insulin

Thiazide and loop diuretics

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117
Q

What are the rare renal causes of hypokalaemia?

A

Renal tubular acidosis type 1 and 2

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118
Q

Which acid-base abnormality CAUSEs hypokalaemia?

A

Metabolic alkalosis

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119
Q

Which renal tubular acidosis is characterised by hypokalaemia and acidosis?

A

Type 1 and type 2

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120
Q

Which renal tubular acidosis is characterised by hyperkalaemia and acidosis?

A

Type 4

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121
Q

What is type 4 renal tubular acidosis?

A

Aldosterone deficiency or resistance (acidosis and hyperkalaemia).

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122
Q

What is the management for mild hypokalaemia (3 - 3.5 mmol/L)?

A

Oral KCl (2 SandoK tablets TDS for 48h)

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123
Q

What is the management for severe hypokalaemia (<3 mmol/L)?

A

IV potassium chloride due to risk of cardiac arrest

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124
Q

Which investigation is performed for Conn’s syndrome?

A

Aldosterone : renin ratio - raised

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125
Q

What is the important investigation performed in hyperkalaemia?

A

ECG

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126
Q

Which renal tubular acidosis is associated with hyperkalaemia?

A

Type 4

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127
Q

What is the cause of type 4 renal tubular acidosis?

A

Aldosterone deficiency

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128
Q

Which drugs are associated with decreased excretion of potassium?

A

Potassium-sparing diuretics (Spironolactone), NSAIDs, ACEi, ARBs.

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129
Q

What are the ECGA changes associated with hyperkalaemia?

A

Loss of P waves
Tall-tented T waves
Widened QRS complexes (Broad-complex ventricular tachycardia)
sine wave pattern

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130
Q

What are the indications for calcium gluconate administration in hyperkalaemia?

A

> 5.5 with ECG changes or potassium >6.5

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131
Q

What is the first line drug management for hyperkalaemia?

A

10 mL 10% calcium gluconate

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132
Q

What is the second-line management for hyperkalaemia following calcium gluconate?

A
  1. 100 mL 20% dextrose and 10 units of short-acting insulin (Actrapid – insulin will drive potassium into the cells and dextrose prevents hypoglycaemia).
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133
Q

Which drug is a potassium binding?

A

Calcium resonium

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134
Q

What is the compensatory response with metabolic acidosis?

A

Hyperventilation

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135
Q

What is the anion gap equation?

A

(Na + K) – (Cl + HCO3)

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136
Q

What is the normal anion gap?

A

14-18 mmol/L

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137
Q

What are the causes of a raised anion gap?

A
  • Glycols – ethylene glycol + propylene glycol
  • Oxyproline – Chronic paracetamol use
  • L – Lactate (sepsis)
  • D – Lactate (Short bowel syndrome)
  • M – Methanol overdose
  • A – Aspirin
  • R – Renal failure
  • K – Ketoacidosis
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138
Q

What is the calculation for osmolar gap?

A

Osmolality (measured) - osmolarity (calculated)

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139
Q

What are the markers of synthetic function?

A
  • Clotting (INR)
  • Albumin
  • Glucose
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140
Q

What is raised in acute viral hepatitis?

A

Transaminitis

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141
Q

What is the ratio of ALT:AST in EtOH liver disease?

A

AST:ALT >2

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142
Q

What is the ratio of AST:ALT in viral hepatitis?

A

1:1

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143
Q

Which liver marker differentiates liver-associated rise in ALP from bone?

A

GGT

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144
Q

What are the two raised markers associated with cholestatic/obstructive picture of liver disease?

A

GGT and ALP

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145
Q

What are the physiological cause of isolated raised ALP?

A

Pregnancy (third trimester)

Childhood (growth spurt)

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146
Q

What are the pathological causes of raised ALP >5 ULN?

A

Paget’s disease

Osteomalacia

Liver (cholestasis, cirrhosis)

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147
Q

Why is ALP normal in myeloma?

A

Plasma cells suppress osteoblasts

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148
Q

What are the causes of low albumin?

A

Chronic liver disease

Malnutrition

Protein-losing enteropathy

Nephrotic syndrome

Sepsis (third spacing)

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149
Q

What are the causes of a raised urea?

A

Upper GI bleed

Dehydration/AKI

150
Q

What is the average albumin synthesis?

A

200 mg/kg/day

151
Q

Why is hypoalbuminaemia common in hospitalised patients?

A

Due to malnutrition and acute illnness

152
Q

Which clotting factors are synthesised by the liver?

A

Factor V, VII, IX, X, XII and XIII, fibrinogen and prothrombin.

153
Q

What is is the tumour marker associated with hepatocellular carcinoma?

A

AFP

154
Q

Why does hypoglycaemia arise in acute hepatic injury?

A

Due to impaired glycogen storage

155
Q

Which enzyme is implicated in vitamin-D hydroxylation in the liver?

A

25-hydroxylase

156
Q

Which reticuloendothelial cell is implicated in liver function?

A

Kupffer cell

157
Q

What is the breakdown product of haem?

A

Bilirubin

158
Q

How is bilirubin excreted by the kidneys?

A

As urobilinogen

159
Q

How is bilirubin secreted in the faeces?

A

Stercobilin

160
Q

What are the three main causes of pre-hepatic jaundice?

A

Haemolytic anaemia

Ineffective erythropoiesis e.g., thalassemia

Congestive cardiac failure

161
Q

Conjugated bilirubin in pre-hepatic jaundice?

A

Absent

162
Q

What is raised in pre-hepatic jaundice?

A

Unconjugated BR

163
Q

Urine bilirubin in pre-hepatic jaundice?

A

Absent

164
Q

Urine colour in pre-hepatic jaundice?

A

Normal due to Urobilinogen

165
Q

What are the common hepatic causes of hepatic jaundice?

A

1) Hepatocellular dysfunction (Viral, alcoholic hepatitis)

2) Impaired conjugation/BR excretion, BR uptake (Gilbert Syndrome, Crigler Najjar Syndrome)

166
Q

What type of bilirubin is raised in intra-hepatic jaundice?

A

Conjugated
Unconjugated
Urobillinogen

167
Q

Why is urine dark in hepatic jaundice?

A

Dark (Urobilinogen + conjugated BR)

168
Q

Why is urine dark in post-hepatic jaundice?

A

Dark (Conjugated BR leaks out of hepatocytes)

169
Q

What are the intraluminal causes of post-hepatic jaundice?

A

(Stones/strictures)

170
Q

What are the luminal causes of post-hepatic jaundice?

A

(Mass/neoplasm e.g., PBC, PSC).

171
Q

What are the extra-luminal causes for post-hepatic jaundice?

A

Pancreas

Cholangiocarcinoma

172
Q

What happens to haptoglobin in intravascular haemolysis?

A

Reduced

173
Q

Which markers are raised in haemolysis?

A

LDH and unconjugated BR

174
Q

What is the neonatal presentation of Crigler-Najjar Syndrome?

A

Severe jaundice and Kernicterus

175
Q

Which enzyme is partially deficient in Gilbert syndrome?

A

Glucronyl transferase

176
Q

Which enzyme is deficient in porphyria cutanea tarda?

A

Uroporphyringoen III decarboxylase

177
Q

Which porphyria is characterised by increased skin fragility, hyperpigmentation, scarring, and chronic photosensitivity?

A

Porphyria cutanea tarda

178
Q

What are the 4 P’s (symptoms) for acute intermittent porphyria?

A

Painful abdomen
Psychosis
Peripheral neuropathy
Port urine

179
Q

Which enzyme is affected for acute intermittent porphyria?

A

HMB synthase

180
Q

What is the first line management for acute intermittent porphyria?

A

Haem arginate

181
Q

Which porphyria is associated with acute neurovisceral attacks, and blistering skin?

A

Hereditary coproporphyria

182
Q

What urinary marker is raised in acute intermittent porphyria?

A

Urinary PBG, ALA

183
Q

What is the inheritance pattern for acute intermittent porphyria?

A

Autosomal dominant

184
Q

What term describes normal T3/T4 but raised TSH?

A

Subclinical hypothyroidism

185
Q

Which antibody is positive for Hashimoto’s thyroiditis?

A

Anti-thyroid peroxidase

186
Q

Which ovarian tumour secretes thyroid hormone?

A

Struma ovarri (associated with teratoma)

187
Q

Which drugs can induce thyroiditis?

A

Amiodarone, lithium, interferon alpha

188
Q

What is the cause of factitious thyroiditis?

A

Levothyroxine (inappropriate use).

189
Q

What is the symptomatic relief for hyperthyroidism?

A

Beta-blockers e.g., propanolol

190
Q

What is the target for carbimazole?

A

Competitive inhibitor for TPO enzyme - block thyroid hormone synthesis

191
Q

What drug reduces peripheral tissue conversion of T4 to T3?

A

Propylthiouracil

192
Q

What are the side effects associated with carbimazole?

A

Agranulocytosis

193
Q

Which anti-thyroid drug is recommended for the first trimester of pregnancy?

A

Propylthiouracil

194
Q

Radioactive iodinine therapy destroys which type of cells?

A

Thyroid follicular cells

195
Q

A hot spot on US, indicates what?

A

Toxic adenoma

196
Q

A cold spot on thyroid US indicates what?

A

Low uptake

197
Q

Multifocal hot spots on thyroid ultrasound indicates what?

A

Multinodular goitre

198
Q

What are the histological characteristics associated with papillary thyroid cancer?

A

Psammomma bodies and Orphan-Annie Eyes

199
Q

Orphan-Annie Eyes on histology are associated with which type of thyroid cancer?

A

Papillary thyroid cancer

200
Q

Which is the commonest thyroid cancer and is associated with a very good prognosis?

A

Papillary thyroid cancer

201
Q

What is the tumour marker for Papillary thyroid cancer?

A

Thyroglobulin

202
Q

What is the second commonest type of thyroid cancer?

A

Follicular thyroid carcinoma

203
Q

What is the tumour marker for follicular thyroid carcinoma?

A

Thyroglobulin

204
Q

Which thyroid cancer is associated with MEN2?

A

Medullary thyroid carcinoma

205
Q

What is the marker for medullary thyroid carcinoma?

A

Calcitonin

206
Q

Calcitonin is secreted from which cells?

A

Parafollicular C cells

207
Q

Which rare type of thyroid cancer has a poor prognosis?

A

Anaplastic thyroid cancer

208
Q

Which genes are associated with papillary thyroid carcinoma?

A

RET/PTC

209
Q

How do thyroid cancers appear on a radioiodine scan?

A

As a cold nodule

210
Q

What is the most common cause of hypothyroidism worldwide?

A

Iodine deficiency

211
Q

In the developed world, what is the most common cause of hypothyroidism?

A

Hashimoto’s thyroiditis, primary atrophic hypothyroidism

212
Q

What is Riedel’s thyroiditis?

A

Dense fibrosis, replacing normal parenchyma, painless and sgtony hard

213
Q

What are the common causes of central hypothyroidism?

A

Pituitary tumours, Sheehan syndrome, TRH resistance

214
Q

Hurthle cells are associated with what?

A

Hashimoto’s thyroiditis

215
Q

Which cell type is involved in Hashimoto’s thyroiditis?

A

CD8+ Cytotoxic T-cells

216
Q

Is there a goitre in primary atrophic hypothyroidism?

A

No goitre

217
Q

What drug is used for the management for Myxoedema coma?

A

Liothyronine (T3)

218
Q

Which gender is affected the most in Graves’ disease?

A

Females 9:1

219
Q

Which antibody is associated with Graves’ disease?

A

Anti-TSH-receptor antibody

220
Q

What is Plummer’s disease?

A

Toxic multinodular goitre

221
Q

Which hyperthyroidism is associated with low uptake?

A

Subacute De Quervain’s thyroiditis

222
Q

Why does lid-lag occur in hyperthyroidism?

A

Superior tarsal muscle is sensitised to catecholamines

223
Q

What ocular manifestation is associated with Graves’ disease?

A

Graves orbitopathy - proptosis and exopthalmos

224
Q

What nail condition is associated with Graves’ disease?

A

Thyroid acropachy

225
Q

How does potassium iodide establish a euthyroid state prior to surgery?

A

Via the Wolf-Chaikoff effect

226
Q

What diameter defines a pituitary tumour as a macroadenoma?

A

> 10 mm (1 cm)

227
Q

What are the common symptoms associated with a macroadenoma?

A

Bitemporal hemianopia and headache

228
Q

What is the prolactin threshold that is diagnostic for a prolactinoma as opposed to a non-functioning pituitary tumour?

A

Prolactin >6000

229
Q

What is the first line investigation for a prolactinoma?

A

Serum prolactin

230
Q

What is the first-line treatment for a prolactinoma?

A

Cabergoline

231
Q

What is the second-line investigation for a suspected prolactinoma?

A

Pituitary MRI + Perimetry

232
Q

What is the definitive management for a prolactinoma?

A

Trans-sphenoidal surgery

233
Q

What is the gold-standard investigation for acromegaly?

A

oral glucose tolerance test - paradoxical increase in growth hormone

234
Q

What is the frequent surveillance indicated for acromegaly?

A

Colonoscopy

235
Q

Which serum marker is raised in acromegaly?

A

Serum IGF-1

236
Q

What is the first line of management for acromegaly?

A

Trans-sphenoidal surgery

237
Q

Why is cabergoline added post-operatively following a TSS-Surgery for acromegaly?

A

Lactotroph origin expressing D2 receptors

238
Q

What are the three hormones that are administered for a combined pituitary function test?

A

GnRH (100 mcg) - increases LH/FSH
TRH (200 mcg) - TSH and prolactin
Insulin (0.15 units/kg) CRH and Growth hormone

239
Q

How much should growth hormone increase by in 30 minutes following a combined pituitary function test?

A

> 3

240
Q

How much should cortisol increase by following a combined pituitary function test?

A

> 450

241
Q

TSH, LH FSH increase by how much following a combined pituitary function test (at 30 minutes)?

A

> 10

242
Q

Following a combined pituitary function test, when should pituitary hormones be assessed?

A

30 minutes (for 2 hours)

243
Q

A combined pituitary function test is contraindicated in what conditions?

A

IHD, epilepsy, untreated hypothyridism

244
Q

What are the side effects associated with a combined pituitary function test?

A

Sweating, palpitations, loss of consciousness, transient metal taste in the mouth and flushing

245
Q

An insulin tolerance test should cause glucose to follow what level?

A

<2.2 mmol/L

246
Q

Which 2 hormones are stimulated following an insulin tolerance stress test?

A

Cortisol and growth hormone

247
Q

Which 2 hormones are stimulated following a TRH stress test?

A

TSH and prolactin

248
Q

What are the manifestations of multiple endocrine neoplasia type 1? 3 ps

A

Parathyroid hyperplasia
Pituitary tumours e.g., Prolactinoma, growth hormone
Pancreatic tumours e.g., Zollinger-Ellison syndrome.

249
Q

What are the manifestations of MEN type 2a?

A

Parathyroid hyperplasia
Phaeochromocytoma
Thyroid medullary carcinoma

250
Q

What are the manifestations of MEN type 2b?

A

Phaeochromocytoma
Thyroid medullary carcinoma
Mucosal neuromas

Associated with a Marfanoid habitus

251
Q

Which MEN syndrome is associated with a Marfanoid habitus?

A

MEN 2b

252
Q

What is the most common cause of primary adrenal insufficiency in the developed world?

A

Autoimmune aetiology e.g., Autoimmune polyendocrine syndrome type 1

253
Q

Which infectious are associated with primary adrenal insufficiency?

A

Tuberculosis

254
Q

Why is there hyperpigmentation associated with primary adrenal insufficiency (Addison’s)?

A

Due to increased levels of POMC precursor and MSH levels

255
Q

What are electrolyte abnormality is associated with Addison’s disease?

A

Reduced potassium excretion = Hyperkalaemia
Reduced sodium reabsorption = Hyponatraemia

256
Q

What is the acid-base balance for Addison’s disease?

A

Metabolic acidosis

257
Q

What is the most common enzyme deficiency associated with CAH?

A

21-hydroxylase (associated with increased testosterone)

258
Q

11b hydroxylase deficiency is associated with what?

A

Accumulation of 11-deoxy cortisone - increased mineralocorticoid activity and cortisol deficiency

259
Q

17-hydroxylase deficiency is associated with what?

A

Reduced cortisol, oestrogens and androgens

260
Q

Which complication of fulminant meningococcemia is associated with adrenal insufficiency?

A

Waterhouse Friedricschen Syndrome

261
Q

What syndrome is associated with co-existing hypoadrenalism and hypothyroidism?

A

Schmidt’s syndrome

262
Q

What is the cause of central adrenal insufficiency?

A

Pituitary gland dysfunction

263
Q

What is the main cause of tertiary adrenal insufficiency?

A

Hypothalamic dysfunction

264
Q

What is the first line of investigation for suspected adrenal insufficiency?

A

Morning 9 am cortisol and serum ACTH

265
Q

What test is diagnostic for adrenal insufficiency?

A

Short SynACTHen test
Low = primary
Rise = Tertiary or central

266
Q

What is the most important hormone to replace in primary adrenal insufficiency?

A

Hydrocortisone (most important) and Fludrocortisone

267
Q

What is the most common cause of Cushing’s disease?

A

Pituitary tumour

268
Q

Where is cortisol produced in the adrenal gland?

A

Zona fasciculata

269
Q

What are the two ACTH-dependent causes of Cushing’s?

A

Pituitary tumour and ectopic-ACTH

270
Q

What are the two ACTH-independent causes for Cushing’s syndrome?

A

Adrenal adenoma and iatrogenic

271
Q

What are the symptoms of Cushing’s?

A

Moon face
Buffalo hump
Central obesity, striae, acne
Hypertension
Diabetes
Proximal myopathy
Hirsutism
Bruising

272
Q

What are the first line investigations for suspected Cushing’s syndrome?

A

24-hour urine free cortisol or late evening salivary cortisol OR overnight dexamethasone suppression test

273
Q

What is the second line investigation for suspected Cushing’s?

A

Serum ACTH to differentiate the two causes

274
Q

For ACTH-independent causes of Cushing’s, what is the next-line of investigation?

A

CT adrenals followed by adrenalectomy

275
Q

What is the diagnostic investigation to confirm ACTH dependent causes of Cushing’s syndrome?

A

Bilateral inferior petrosal sinus sampling

276
Q

What is the first line management for ACTH-independent adrenal causing Cushing’s?

A

Adrenalectomy and steroid replacement

277
Q

Which hormones are produced by the zona glomerulosa?

A

Mineralocorticoids e.g., aldosterone

278
Q

Which zone of the adrenal cortex produces cortisol?

A

Zona fasciulata

279
Q

Which zone of the adrenal cortex produces sex hormones?

A

Zona reticularis

280
Q

Where are catecholamines made?

A

Adrenal medulla

281
Q

Which cells form part of the RAAS?

A

Macula densa

282
Q

What is the role of renin?

A

Stimulates the conversion of angiotensinogen to angiotensin-I

283
Q

What is the of ACE?

A

Converts angiotensin-I to angiotensin-II

284
Q

Function of angiotensin-2?

A

Stimulates aldosterone synthesis from the Zona granulosa of the adrenal cortex

285
Q

What is the most common cause of primary hyperaldosteronism?

A

Bilateral adrenal hyperplasia

286
Q

What is Conn’s syndrome?

A

Adrenal adenoma

287
Q

What is the complication following an adrenalectomy?

A

Nelson’s syndrome (pituitary enlargement due to depleted negative feedback resulting in compressing of the stalk

288
Q

What electrolyte imbalance is associated with primary hyperaldosteronism?

A

Hypokalaemia, Hypernatraemia, metabolic alkalosis

289
Q

What acid base disturbance is associated with hypokalaemia?

A

Metabolic alkalosis

290
Q

What is the first line of investigation for Primary hyperaldosteronism?

A

Aldosterone: renin ratio (Raised – renin suppressed) = >40.

291
Q

Which drug is used to manage primary hyperaldosteronism?

A

spironolactone, eplerenone

292
Q

Which cells are implicated in a phaeo?

A

chromaffin cells

293
Q

Which familial syndromes predispose the development of a phaeo?

A

Von-Hippel Lindau
MEN2
NF1

294
Q

Which nests are seen in a phaeo?

A

Zellballen nests of chromaffin cells

295
Q

What % of Phaeos are bilateral, and associated with syndromes?

A

10%

296
Q

What is a paraglioma?

A

Secretes noradrenaline - sympathetic chain

297
Q

What urinary test is used for the diagnosis of a phaeo?

A

24h urinary metadrenaline/metanephrine

298
Q

What precursor molecule is used to screen for a phaeo?

A

Meta-lodobenzylguanidine scan (MIBG)

299
Q

Which drug is given first in a phaeo?

A

Alpha blockade (first) – phenoxybenzamine

300
Q

What drug class is given second for a phaeo?

A

Beta blockade – Propranolol, atenolol, metoprolol

301
Q

What is the normal range for calcium?

A

2.2 to 2.6

302
Q

What is the formula for corrected calcium?

A

Serum Ca + 0.02 x (40 –
serum albumin (g/l))

303
Q

How is most calcium transported across the body?

A

50% bound to albumin

304
Q

Which enzyme is upregulated by PTH?

A

tubular 1-alpha-hydroxylation

305
Q

What effect does PTH have on phosphate?

A

Increased renal phosphate EXCRETION

306
Q

What effect does calcitriol have?

A

Calcium and phosphate reabsorption from the gut.
Bone remodelling

307
Q

Which type of vitamin D is from plants?

A

Ergocalciferol

308
Q

Where is 25-hydroxylase found?

A

Liver

309
Q

Which enzyme is responsible for the activation of 25-hydroxy-vitamin D?

A

1-alpha-hydroxylase

310
Q

Where does 1-alpha-hydroxylase work?

A

Proximal renal convoluted tubule

311
Q

Which receptors are responsible for detecting serum calcium?

A

Calcium sensing receptor

312
Q

Which parathyroid gland cells product PTH?

A

Chief cells

313
Q

Which is the most common cause of primary hyperparathyroidism?

A

Single parathyroid adenoma

314
Q

What are the common causes of secondary hyperparathyroidism?

A

Chronic kidney disease
* Vitamin D deficiency
* Malabsorption syndromes

315
Q

What are the causes of tertiary hyperparathyroidism?

A

parathyroid gland hyperplasia

316
Q

Which lung cancer is responsible for hypercalcaemia of malignancy?

A

Squamous cell lung carcinoma

317
Q

What is the metabolic panel results for osteoporosis?

A

Normal

318
Q

What blood marker is raised for Paget’s disease?

A

ALP

319
Q

Which two markers are raised for Osteomalacia?

A

Raised ALP and PTH

320
Q

What is the calcium level in secondary HyperPTH?

A

Low

321
Q

Which syndrome is associated with type 1 pseudohypoparathyroidism?

A

Albright’s Hereditary Osteodystrophy phenotype

322
Q

Which signs is characterised by ipsilatearl twitching of the upper lip and side of the mouth in hypocalcaemia?

A

Chvostek’s sign

323
Q

Which sign is associated with a carpal spasm?

A

Trousseau’s sign

324
Q

What is pseudopseudohypoparathyroidism?

A

phenotypic expression of ABO without PTH resistance.

325
Q

What are the features of Albright Hereditary Osteodystrophy?

A

Short stature
* Round face
* Shortened fourth/fifth metacarpal bones.
* Lab: Hypocalcaemia and hyperphosphatemia + raised PTH.

326
Q

What is the commonest cause of hypercalcaemia in the community?

A

Primary hyperparathyroidism

327
Q

What is the commonest cause of hypercalcaemia in hospitals?

A

Malignancy

328
Q

What ECG changes are associated with hypercalcaemia?

A

Prolonged PR interval, short QT interval, widened QRS complex and bradycardia

329
Q

What is the first line management for hypercalcaemia?

A

IV fluids and bisphosphonates

330
Q

What is the inheritance pattern for Familial Hypocalciuric Hypercalcaemia?

A

Autosomal dominant

331
Q

Which mutation is implicated in Familial Hypocalciuric Hypercalcaemia?

A

CaSR mutation - Decreased receptor activity - increased set point of calcium sensing (higher than normal calcium to suppress PTH)

332
Q

What is the most common cause of hypocalcaemia?

A

PTH deficiency secondary to iatrogenic insult

333
Q

Which mutation is involved in Tangier disease?

A

ABCA-1 gene

334
Q

Which transporter protein transports cholesterol across the intestinal epitheilum?

A

NPC1L1

335
Q

Which drug is used to reduce sterol absorption?

A

Ezetimibe

336
Q

Which ATP transport proteins are implicated in intestinal cholesterol absorption?

A

ABCG5 * ABCG8

337
Q

Where are bile acids reabsorbed?

A

Terminal ileum

338
Q

What is the order lipoprotein density?

A

Chylomicron < FFA < VLDL < LDL < IDL < HDL

339
Q

Which enzyme converts acetate and mevalonic acid into cholesterol?

A

HMG CoA reductase

340
Q

Which enzyme promotes the degradation of LDLR?

A

PCSK9

341
Q

What is the mechanism of action for Evolocumab?

A

Anti-PCSK9 Monoclonal antibody

342
Q

Which enzyme hydroxylates cholesterol into bile acids?

A

7-alpha hydroxylase

343
Q

Which enzyme esterifies cholesterol?

A

ACAT

344
Q

Which enzyme packages free cholesterol into HDL?

A

ABC A1

345
Q

Which transfer protein mediates the movement of cholesterol from HDL to VLDL?

A

Cholesteryl ester transfer protein

346
Q

What is the protein involved in lomitapide?

A

Microsomal TG Transfer Protein Inhibitor

347
Q

Which enzyme is inhibited in statin therapy?

A

HMG-CoA reductase

348
Q

What is the mechanism of action for orlistat?

A

Pancreatic lipase inhibitor

349
Q

What is the BMI threshold for bariatric surgery?

A

BMI >40Kg/m2

350
Q

Type 3 hyperlipidaemia is associated with which APOE protein?

A

APOE2

351
Q

Which vitamin is responsible for retinitis pigmentosa?

A

Vitamin A

352
Q

Which vitamin is deficient in beri beri?

A

B1 thiamine

353
Q

What causes pellagra?

A

Niacin

354
Q

What is the effect of b6 deficiency?

A

Neuropathy

355
Q

Which type of anaemia is associated with b12 deficiency?

A

Pernicious anaemia

356
Q

What is the effect of iodine deficiency?

A

Hypothyroidism and goitre

357
Q

Zinc deficiency causes what?

A

Dermatitis

358
Q

Which vitamins are deficient in coeliac disease?

A

ADEK

359
Q

Which enzyme is increased in parotitis?

A

Serum amylase-S

360
Q

What is the marker of chronic pancreatitis?

A

Faecal elastase

361
Q

Which raised enzyme marker is highly indicates of acute pancreatitis?

A

Lipase

362
Q

What is the marker of skeletal muscle damage?

A

CK-MM

363
Q

What is the marker for cardiac muscle damage?

A

CK-MB

364
Q

What are the risk factors for statin related myopathy?

A

High dose
o Genetic predisposition
o Previous history of myopathy
o Polypharmacy (fibrates, cyclosporin)

365
Q

What is the effect of statin related myopathy?

A

Rhabdomyolysis

366
Q

Which marker is raised in stain-related myopathy?

A

CK-MM

367
Q

Which is a good marker for suspected reinfarction?

A

CK-MB

368
Q

Which enzyme differentiates from liver and bone raised ALP?

A

GGT

369
Q

Which porphyria is characterised by cutaneous symptoms of vesicular and bullous eruptions on sun-exposed skin?

A

Porphyria cutanea tarda

370
Q

What is the best marker for acute liver injury?

A

Prothrombin time

371
Q

PAH converts phenylalanine into what?

A

Tyrosine

..Pathology- Imperial College London MBBS (5 decks)

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