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Path Mega Deck > Chemical Pathology > Flashcards

Chemical Pathology Flashcards

1
Q

The enzyme expressed by sarcoid lung tissue which causes hypercalcaemia

A

1a-hydroxylase (= rate limiting step in Vitamin D production!)

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2
Q

Costochondral swelling

A

Rickets

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3
Q

Looser’s Zones = pseudofractures

A

Osteomalacia

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4
Q

Colle’s Fracture

A

Osteoporosis

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5
Q

Band Keratopathy

A

Hypercalcaemia (calcium deposits on eyes)

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6
Q

Osteitis Fibrosa Cystica

A

Hypercalcaemia – get brown tumours in bone

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7
Q

Cancer which releases PTHrP

A

Squamous cell LC

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8
Q

Brown tumours in bone

A

Hyperparathyroidism (activated osteoclasts form multinucleated giant cells)

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9
Q

Hypercalcaemia in summer only

A

Sarcoidosis (macrophages in lung express 1α-hydroxylase, but not enough Vit D in winter to activate)

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10
Q

Chvostek’s Sign

A

Hypocalcaemia = twitch when flick cheek

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11
Q

Trousseau’s Sign

A

Hypocalcaemia = inflate BP cuff causes carpal spasm

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12
Q

Jigsaw/mosaic pattern in bone

A

Paget’s Disease (disordered bone remodelling)

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13
Q

Most reliable sign of hypovolaemia in hyponatraemia, which must be done first (before giving fluids)

A

Low urine Na+ (<20)

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14
Q

Molecule causing vasodilation and low BP in cirrhosis

A

Nitric Oxide

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15
Q

Tendon Xanthoma

A

Familial hypercholesterolaemia

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16
Q

Eruptive xanthomas (papules on skin)

A

Primary Hypertriglyceridaemia

Diabetes

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17
Q

Gross xanthelasma

A

Primary Biliary Cirrhosis

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18
Q

Monoclonal used in hereditary hypercholesterolaemia

A

Evolocumab = PCSK9 monoclonal

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19
Q

Diabetes Control and Complications Trial (DCCT)

A

Type 1 DM: tight control improves outcomes

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20
Q

UK Prospective Diabetes Study (UKPDS)

A

Takes 15 years to have CVD benefit –> but this benefit lasts 10 years

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21
Q

ACCORD Study

A

Intensive treatment in older diabetics increases mortality

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22
Q

ADVANCE Study

A

Looser control works better in older people

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23
Q

Drug added to long-term poorly controlled diabetes with ESTABLISHED CVD

A

Empagliflozin (SGLT2 inhibitor) or liraglutide (GLP-1 agonist)

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24
Q

Breathing type in metabolic acidosis

A

Kussmaul Breathing (deep laboured)

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25
Q

Diabetes drug causing metabolic acidosis

A

Metformin (prevents lactase to glucose conversion)

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26
Q

3 definitions of diabetes

A
  • Fasting PLASMA glucose > 7.0mM
  • Plasma glucose after GTT > 11.1mM at 2hrs
  • HbA1c > 6.5% (48mmol/mol)
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27
Q

Impaired Glucose Tolerance definition

A

Plasma glucose after GTT 7.8 – 11.1mM at 2hrs

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28
Q

Low blood glucose, but high C-peptide. What test should you do?

A

Check urine sulphonylurea as could have OD’d on gliclazide (endogenous insulin)

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29
Q

Non-Islet Cell Tumour secrete which hormone, causing hypoglycaemia

A

IGF-2 (binds to insulin receptors, acting like insulin)

e.g. mesothelioma, fibroblastoma…

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30
Q

Mutation causing congenital hyperinsulinism = hypoglycaemia

A

Glucokinase activating mutations

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31
Q

Glucocorticoids secreted by which part of adrenal?

A

Zona fasciculata

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32
Q

Androgens secreted by which part of adrenal?

A

Zona reticularis

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33
Q

Aldosterone secreted by which part of adrenal?

A

Zona glomerulosa

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34
Q

Short SynACTHen test

A

Addison’s Disease (don’t make enough cortisol after given synACTH)

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35
Q

Syndrome which increases risk of phaeochromocytoma

A

MEN II

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36
Q

High aldosterone and low renin

A

Conn’s (high aldosterone suppresses JGA –> low renin)

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37
Q

High aldosterone and high renin

A

Renal artery stenosis

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38
Q

Brown granular casts in urine

A

Acute Tubular Injury

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39
Q

Crescents in glomeruli

A

Crescent Glomerulonephritis (Acute Glomerulonephritis)

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40
Q

Disease causing renal failure, with non-blanching purpuric rash

A

Systemic Vasculitis

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41
Q

Drugs which prevent end-stage renal failure

A

ACEi

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42
Q

Cause of nephrotic syndrome in kids

A

Minimal Change Disease – have loss of foot process

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43
Q

Antibodies in Membranous Glomerulonephritis

A

Antibodies against phospholipase A2

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44
Q

Renal disease with microalbuminuria

A

Diabetic nephropathy

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45
Q

Beta-pleated proteinaceous sheets deposited in kidneys

A

Amyloidosis

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46
Q

Protein found in urine of multiple myeloma

A

Bence-Jones

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47
Q

Crystals in urine after drink antifreeze

A

Calcium oxalate

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48
Q

Sample blood from this vein to measure levels of illegal drugs

A

Femoral vein

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49
Q

Which drug cannot be found in hair?

A

Cannabis (too low levels)

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50
Q

Active metabolite of amitriptyline

A

Nortriptyline

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51
Q

AST : ALT >2

A

Cirrhosis

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52
Q

Half-life of albumin

A

20 days (“important to know this”)

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53
Q

Most important functional test of liver

A

Prothrombin Time

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54
Q

Tumour marker in liver cancer

A

AFP

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55
Q

Beri-Beri caused by what deficiency?

A

B1 (thiamine)

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56
Q

Pernicious anaemia caused by what deficiency?

A

B12

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57
Q

Glossitis (beefy tongue) caused by what deficiency?

A

B2

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58
Q

Test of B12 deficiency

A

RBC Transketolase

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59
Q

Most common co-existing autoimmune condition in hypothyroid

A

Pernicious anaemia

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60
Q

Condition with:

  • Tricuspid and pulmonary stenosis/fibrosis
  • Hepatomegaly with large nodules
  • Raised urine 5HIAA
A

Carcinoid Syndrome = tumour in neuroendocrine cells

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61
Q

Colourless urine gets oxidised to purple before reaches the lab

A

Porphyria (porphyrinogens = colourless –> oxidised very quickly by UV light in urine)

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62
Q

Porphyria with blistering on backs of hands

A

Hereditary Coproporphyria (HCP)

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63
Q

Light hair and mousy/musky urine odour

A

Phenylketonuria (PKU)

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64
Q

Deficiency of what enzyme in Phenylketonuria?

A

Phenylalanine hydroxylase

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65
Q

Metabolic disease causing cot death

A

MCAD Deficiency

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66
Q

Baby smells of sweaty feet

A

Isovaleric Acidemia

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67
Q

Urine smells sweet

A

Maple Syrup Urine Disease

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68
Q

What drug triggers Reye Syndrome?

A

Aspirin (salicylates)

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69
Q

10yo girl hirsutism, low cortisol, raised ACTH and 17 hydroxyprogesterone

A

Congenital Adrenal Hyperplasia = lack 21-hydroxylase

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70
Q

Polysplenia and situs inversus

A

Biliary atresia

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71
Q

Ambiguous genitalia in neonates

A

Congenital Adrenal Hyperplasia (increased 17-OH progesterone –> increased androgens)

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72
Q

Frontal bossing in kids

A

Rickets

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73
Q

Caput medusa

A

Portal HTN (blood goes back down portal vein to umbilicus)

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74
Q

Gilbert’s caused by deficiency in which enzyme?

A

UDP glucuronyl transferase

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75
Q

Mode of inheritance in Gilbert’s

A

Autosomal recessive

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76
Q

Rate-limiting step of purine metabolism?

A

PPRP to 5-phosphoribosyl-1-amine (via PAT)

  • PAT under feedback control by ANP and GNP
  • HPRT = enzyme which helps make ANP and GNP
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77
Q

Gouty arthropathy, retarded and self-mutilates

A

Lesch Nyhan Syndrome (X-linked disease –> males born with no HPRT at all)

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78
Q

Gout crystals

A

Monosodium urate

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79
Q

Name of acute gout

A

Podagra

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80
Q

Cheesy ear lobes and gouty arthropathy

A

Chronic gout = tophaceous

81
Q

Pseudogout crystas

A

Calcium pyrophosphate

82
Q

Negatively birefrigent, needle-shaped

A

Monosodium urate

83
Q

Positively birefringent

A

Calcium pyrophosphate (pseudogout)

84
Q

Crystals in same axis of polarised light

A

Calcium pyrophosphate (pseudogout)

85
Q

Crystals perpendicular to axis of polarised light

A

Monosodium urate (gout)

86
Q

Allopurinol inhibits which enzyme?

A

Xanthine oxidase

87
Q

Never mix allopurinol with what other drug?

A

Azathioprine (allopurinol interacts with azathioprine metabolism –> makes it last longer in body
–> toxic on bone marrow)

88
Q

Form of Vitamin D made after action of 1a-hydroxylase on 25-OH D3?

A

Calcitriol = active form of Vitamin D

89
Q

Hormone which stimulates 1a-hydroxylase in kidneys to increase Vitamin D3 production

A

PTH

90
Q

23 year old who has just started penicillin. Presents with confusion, weakness and seizures. Pale, bruised and breathing deeply.

A

Acute Tubulointerstitial Nephritis

91
Q

45 year old female with swelling ankles and abdomen. Urine dipstick +++ protein, no blood. Microscope shows thichening of GBM

A

Membranous Glomerulonephritis

92
Q

7yo boy with swelling of legs and sacrum. Urine dipstick ++ proteinuria, no blood

A

Minimal Change Disease

93
Q

25yo male sees blood in urine. Microscope shows mesangial cell proliferation

A

Mesangiocapillary Glomerulonephritis

94
Q

45yo female with swelling ankles, abdomen. Urine dipstick +++ protein, no blood. Microscope shows segmental scarring of glomeruli

A

Focal Segmental Glomerulosclerosis

95
Q

Child with excessively sweaty feet

Also: lethargy, poor feeding, hypotonia

A

Maple Syrup Urine Disease

96
Q

“Cherry-red spot” in which group of disorders?

A

Lysosomal Storage Disorders

97
Q

Overdose of this medication causes hypotension and ataxia

A

Phenytoin

98
Q

Cortisol not suppressed by low-dose dexamethasone, but suppressed by high-dose

A

Cushing’s Disease

99
Q

Increased levels are seen in the urine of CAH patients

A

Pregnanetriol

100
Q

Sore throat a few days ago –> smoky-colour urine, puffy face, tired

A

Acute Proliferative Glomerulonephritis (post-streptococcal glomerulonephritis)

101
Q

Sore throat –> proliferation of mesangium, microscopic haematuria

A

IgA nephropathy

-proliferation of mesangium is characteristic

102
Q

Gold-standard for measuring GFR

A

Inulin

103
Q

What vitamin deficiency in “Muslim woman”?

A

Vitamin D Deficiency (Muslim woman = hijab!)

104
Q

Enzyme raised in mumps

A

Amylase

105
Q

Deficiency of this vitamin causes triad of “3 D’s” = diarrhoea, dermatitis, dementia

A

Niacin

106
Q

End-stage renal failure, with high PTH and high calcium

A

Tertiary hyperparathyroidism

107
Q

Serum electropheresis shows monoclonal band

A

Multiple Myeloma

108
Q

Pain and stiffness in lower back and bum – worse in morning, but eases as day goes by

A

Ankylosing Spondylitis

109
Q

Serum electropheresis shows IgM spike

A

Waldenstrom’s Macroglobulinaemia

110
Q

A 50 year male with multiple myeloma comes to his GP complaining of ankle swelling. Urine dipstick shows proteinuria. On examination he is also noted to have macroglossia and waxy papules on his face.

A

Amyloidosis

111
Q

Raised anti-streptolysin O titre (ASOT)

A

Post-strep glomerulonephritis

112
Q

Which type of strep is involved in post-strep glomerulonephritis?

A

Group A beta-haemolytic strep (Strep Pyogenes = preceding pharyngitis)

113
Q

Immunofluoresence of GBM –> granular staining

A

Immune complex subtype of Rapidly Progressive Glomerulonephritis

114
Q

Immunofluoresence of GBM –> absent/scant staining

A

Pauci-immune subtype of Rapidly Progressive Glomerulonephritis

115
Q

Immunofluoresence of GBM –> linear staining

A

Anti-GBM subtype of Rapidly Progressive Glomerulonephritis

116
Q

Kveim Test

A

Sarcoidosis (inject sample of spleen from known sarcoid patient into suspected sarcoid patient –> non-caseating granuloma after 6 weeks)

NOT used in UK!

117
Q

X-Ray shows punched-out lytic lesions in bones

A

Multiple Myeloma

118
Q

Side effect of medication: course tremor and diarrhoae

A

Lithium

119
Q

Side effect of medication: prolonged PR interval

A

Digoxin

120
Q

Bone pain in arms and legs
Shooting pains down left leg
Worsening SOB

A

Paget’s! (weak woven bone infiltrate bone marrow –> high-output heart failure)

121
Q

Tall P waves and flattened T waves

A

Hypokalaemia

122
Q

Boy with episodic abdominal pain and recurrent acute pancreatitis. Plasma has milky appearance and chylomicrons are found in the plasma following a period of fasting.

A

Lipoprotein lipase deficiency

123
Q

Cause of pseudo-Vitamin D deficiency

A

Defect in renal hydroxylation

124
Q

3-week old boy with severe jaundice at birth, worsening ever since

A

Crigler-Najjar syndrome = defect in bilirubin metabolism

125
Q

First-line test when screening for metabolic diseases

A

Amino acids (urine and plasma)

126
Q

A male infant presents with failure to thrive, neurological signs (including tremor) and tachypnea - what metabolic defect?

A

Urea Cycle Disorder (neuro signs + tachypnoea = encephalopathy + alkalosis = increased ammonia!)

127
Q

Metabolic disorders causing jaundice and sepsis

A

Galactosaemia and tyrosinaemia

128
Q

Deficiency that causes Wernicke’s

A

Thiamine (B1)

129
Q

Cause of acute intermittent porphyria

A

PBG Deaminase Deficiency

-attacks triggered by alcohol, COCP and TB meds

130
Q

Anion gap formula

A

Na + K – Cl - Bicarb

131
Q

Osmolality formula

A

2(Na+K) + U + G

132
Q

Newborn starts drinking milk –> conjugated hyperbilirubin, cataracts and GI symptoms

A

Galactosaemia (mutation in enzyme –> increased galactose when start drinking milk)

133
Q

Nutritional deficiency causing rash in necklace formation

A

Niacin = B3 –> pellagra (4 D’s = Diarrhoea, Dermatitis, Dementia, Death)

134
Q

High-dose dexamethasone suppression test –> high ACTH and cortisol

A

Ectopic ACTH causing Cushing’s syndrome

NOT pituitary-dependent Cushing’s Disease as would have low cortisol after high-dose dex

135
Q

Abdo pain with bruising below umbilicus/on flank

A

Acute Pancreatitis

  • Below umbilicus = Cullen’s Sign
  • On flank = Grey-Turner Sign
136
Q

Haemorrhage which features lucid interval

A

Extradural

137
Q

Severe headache – fundoscopy reveals preretinal (subhyaloid) haemorrhages; CSF shows xanthochromia. Palpable kidneys bilaterally.

A

Subarachnoid Haemorrhage

-“palpable kidneys” = Polycystic!

138
Q

Cause of episodic diarrhoea in long-term diabetic

A

Autonomic Neuropathy

139
Q

Metabolic disease with abnormally long limbs and flushed cheeks

A

Homocystinuria

140
Q

Illegal drug which increases CK

A

Ecstasy

141
Q

Enzyme defect in Homocystinuria

A

Cystathionine beta synthase

142
Q

Most common autoantibody in Hashimoto’s

A

Anti-thyroid peroxidase

143
Q

Propylthiouracil (PTU) inhibits this

A

Thyroid peroxidase

144
Q

Psychiatric drug which increases calcium

A

Lithium

145
Q

Severe hypoglycaemia (symptoms worse after exercise) with sudden weight gain

A

Insulinoma

146
Q

Doege-Potter Syndrome

A

Paraneoplastic where tumour secretes IGF2 –> low glucose

147
Q

Test to distinguish between chronic and acute liver disease

A

Albumin

148
Q

Liver enzyme raised after MI

A

AST

149
Q

Immune deposits on the outside of GBM showing “spike and dome” pattern

A

Membranous Glomerulonephritis

150
Q

Sharp cramping pain in the back radiating to the groin

A

Ureteric stones (renal stones have LOIN to groin)

151
Q

What is Nelson’s Syndrome?

A

Remove adrenals due to Cushings –> Addisonian symptoms

152
Q

Cushingoid, but pituitary and adrenals are normal. Heavy drinker

A

Pseudo-Cushings = caused by alcoholic liver disease and psych conditions

153
Q

This hormone causes 1-alpha hydroxylation

A

PTH

154
Q

Increases intestinal calcium reabsorption

A

Calcitriol (1,25 (OH)2 vitamin D)

155
Q

High PTH, low calcium and high phosphate – hands look weird

A

Pseudohypoparathyroidism = resistance to PTH

hands look weird = blunting of 4th and 5th knuckles

156
Q

Decreased faecal elastase

A

Pancreatic Insufficiency (chronic pancreatitis, CF…)

157
Q

Rate-limiting enzyme in haem synthesis

A

ALA synthase

158
Q

Where is B12 absorbed?

A

Terminal ileum (IBD with terminal ileum resection affected)

159
Q

Where is iron absorbed?

A

Duodenum and jejunum

160
Q

1st step of Vitamin D metabolism

A

Sunlight converts 7-dehydrocholesterol to cholecalciferol (D3)

161
Q

What is 25-OH-D3?

A

Calcidiol

162
Q

Where is 25-OH-D3 (calcidiol) made?

A

Liver: D3 hydroxylated to 25-OH-D3

163
Q

What is active form of Vitamin D?

A

Calcitriol = 1,25-(OH)2-D3

164
Q

Where is calcitriol made?

A

Kidneys: Calcidiol (25-OH-D3) converted by 1a-hydroxylase to calcitriol (1,25-(OH)2-D3)

165
Q

What hormone triggers formation of calcitriol in kidneys?

A

PTH

166
Q

Where is Vitamin D absorbed in gut?

A

Jejunum

167
Q

Sodium and potassium balance in diuretic use

A

Lose sodium, retain potassium

168
Q

Treatment of PBC

A

Bile acid sequestrants (cholestyramine)

169
Q

Normal anion-gap metabolic acidosis

A

Bicarb loss from GI/kidneys (replaced by chloride)

170
Q

Cause of Familial Hypercholesterolaemia

A

Deficiency in LDL receptor

171
Q

Drug used to reduce triglycerides

A

Fibrates (gemfibrozil)

172
Q

Lipoprotein lipase/apo-C deficiency

A

Increased chylomicrons and VLDLs

173
Q

Diuretic which increases renal stones

A

Loop diuretic = increases calcium in urine

174
Q

Diuretic which treats chronic renal stones

A

Thiazide diuretic (bendroflumethazide) = increases calcium reabsorption

175
Q

Diuretic which causes hyperkalaemia

A

Spironolactone = aldosterone antagonist (all other diuretics cause low Na and K)

176
Q

Posterior pituitary makes …

A

ADH and oxytocin

177
Q

Metabolic disorder causing very fair skin, brittle hair and convulsions

A

Homocystinuria

178
Q

Metabolic disorder causing excessively sweaty feet

A

Maple Syrup Urine Disease

179
Q

Baby with dysmorphia and cherry-red spot on trunk

A

Fabry’s Disease (cherry-red spot = lysosomal storage disorder)

180
Q

Drugs which cause isolated rise in GGT

A

Enzyme-inducing drugs (carbamazepine, phenytoin)

181
Q

Drug which increases PR interval and causes bradycardia

A

Digoxin

182
Q

Test to differentiate between primary and secondary Addison’s

A

Long synACTHen test (after 24hrs: cortisol <900 is primary)

183
Q

Corrected calcium formula

A

Serum calcium + 0.02(40-serum albumin)

184
Q

MEN type associated with hyperparathyroid

A

MEN 1 (= pit, para, panc)

185
Q

Organ that releases angiotensinogen

A

Liver

186
Q

This converts angiotensinogen to angiotensin 1

A

Renin

187
Q

Aldosterone acts on what in kidneys?

A

Mineralocorticoid receptor on principal cells in cortical collecting tubules

188
Q

Main cause of hyperkalaemia

A

Renal impairment (less K excreted)

189
Q

Gliptins inhibit this

A

DPP4 (DPP4 breaks down GLP-1)

190
Q

Consequence of hyperventilation in respiratory alkalosis

A

Low ionised calcium –> tetany

191
Q

Area of adrenal which releases adreanline

A

Medulla

192
Q

This provides negative feedback on prolactin

A

Dopamine

193
Q

TRH increases TSH and what else?

A

Prolactin

194
Q

Components of Combined Pituitary Function Test

A
  • Insulin
  • TRH
  • LHRH
195
Q

Normal Combined Pituitary Function Test results

A
  • Glucose <2.2
  • Cortisol 550
  • GH 10
196
Q

First-line investigation in acromegaly

A

Glucose Tolerance Test (GTT) = GH stays >2 when should be suppressed

197
Q

Histological feature of minimal change disease

A

Loss of foot process

198
Q

Main cause of drug-induced cholestasis

A

Co-amoxiclav

199
Q

Cause of Acute Intermittent Porphyria

A

HMB synthase deficiency (autosomal dominant)

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