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Path Mega Deck > Chemical Biology > Flashcards

Chemical Biology Flashcards

1
Q

Commonest cause of hypercalcemia

A

primary hyperparathyroidism parathyroid adenoma

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2
Q

High calcium, PTH supressed, increased ALP

A

malignancy

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3
Q

no longer sensitive to PTH so high PTH despite high calcium

A

Tertiary hyperparathyroidism

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4
Q

This condition expresses 1 alpha reductase and causes hypercalcemia

A

sarcoid

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5
Q

The three commonest causes of hypercalcemia

A

primary hyperthyroidism, cancer, sarcoid

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6
Q

Rememberpatient coming over with constipation, kidney stones and some psychiatry symptoms, bone pain

A

malignacy

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7
Q

What is the best treatment of hypercalcemia

A

fluids, fluids, fluids,

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8
Q

Baby with seizures - Low Ca, Low PTH:

A

DiGeorge

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9
Q

The calcium stones in hypercalcemia have Ca in them and they are

A

radiopaque

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10
Q

What is secondary treatment of hypercalcemia?

A

Then after 4l of fluid within 24h was given, give frusemide

give IV pamidoronate in the patient with known cancer

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11
Q

If the patient has known cancer then you give X for hypercalcemia

A

IV pamidronate

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12
Q

What would the X-ray show of person with hypercalcemia?

A

Radial aspect cystic changes

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13
Q

If you have a patient with sarcoid –

A

give them steroids

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14
Q

how does sarcoidosis cause hypercalcemia?

A

Macropages express 1 alpha hydroxylase

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15
Q

What would the glucose be in someone with Impaired Glucose Tolerance, 2hr after a OGTT

A

Impaired glucose tolerance (IGT) is defined as fasting plasma glucose less than - 7.0 mmol/l and OGTT 2-hour value greater than or equal to 7.8 mmol/l but less than 11.1 mmol/l

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16
Q

raised ALT and AST

A

Cirrhosis

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17
Q

Woman with colicky abdominal pain, raised ALP markedly, others might have been deranged, unsure

A

Complete biliary obstruction

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18
Q

can cause hepatic cirrhosis and portal hypertension in some and cardiomyopathy in others

A

Haemachromatosis

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19
Q

Markers of synthetic function

A

Clotting albumin and PT

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20
Q

HONK

A

↓K, high glucose, high serum osmolality >320, high bicarb bicarbonate >15mmolL

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21
Q

Low sodium, high serum osmolality, 50 year old woman

A

Diabetes mellitus - high lipids create a pseudohyponatraemia with normal osmolality

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22
Q

3 days post prostatectomy with low sodium and everything else normal - fluid overload (they give plain water in TURP)

A

Post prostatectomy

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23
Q

↓K, ↑Na (hypertension), inadequate aldosterone synthesis, hyperandrogenism

A

Congenital adrenal hyperplasia-11 beta hydroxylase deficency

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24
Q

Pt with HTN - high Na, Low K, high aldosterone:low renin

A

Conns

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25
Q

The commonest cause of congenital adrenal hyperplasia

A

21 hydrozylase deficiency

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26
Q

Wchich metabolite would be raised in 21 hydroxylase deficiency?

A

17 hydrocyprogesterone

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27
Q

Increased levels are seen in the urine of CAH patients?

A

preganetriol

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28
Q

What is used to diagnose SIDAH

A

serum osmolality

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29
Q

Pt becomes drowsy 24 hours after RTA - high Na

A

Diabetes insipidus

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30
Q

Dementia/dermatitis/diarrhoea -

A

niacin (=pellagra): B3

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31
Q

Diet poor in veggies, nuts yeas. In coeliac disease, also caused by drugs

A

Folate

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32
Q

Indian lady who is vegan with tiredness and Imacrocytic anaemia -

A

B12

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33
Q

Coeliac disease with swollen tongue and macrocytic anaemia -

A

B12

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34
Q

Someone ‘lacking intrinsic factor’.

A

B12

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35
Q

Crohn’s and macrocytic megaloblastic anaemia

A

could be methotrexate causing folate deficiency

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36
Q

Crohn’s – [as terminal ileum required to absorb and this is commonly affected in Crohn’s]

A

B12 deficiency

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37
Q

Woman with hypothyroidism, T1DM, adrenal failure (polyendocrinopathies – autoimmune and is hinting towards pernicious anaemia): autoimmune anthropic gastritis

A

B12, Shmidt Disease

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38
Q

High LH, FSH, everything else normal

A

Premature Ovarian Failure

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39
Q

Very high prolactin and everything else suppressed

A

prolactinoma/Macroadenoma

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40
Q

High GH, high prolactin? everything else suppressed

A

acromegaly

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41
Q

All values were within normal range

A

non-­‐functioning adenoma

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42
Q

Everything normal but low TSH

A

subclinical hypothyroidism

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43
Q

Everything normal but high TSH and high prolactin (but less than 1000):

A

primary hypothyroidism

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44
Q

high TSH, low T3, T4, everything else normal

A

Myxoedema

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45
Q

(any tumor that secrets IGF-2) hypoglycaemia – incomplete low glucose, insulin, C peptide, FFA and ketones

A

non-islet cell tumor

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46
Q

○ Neonates: ■ Ketones present:

A

IUGR

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47
Q

Neonantes, ketones absent

A

inherited metabolic disorder

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48
Q

high prolactin as it presses on the stalk causing pituitary failure -> low dopamine and high prolactin

A

Non-functioning pituitary adenoma

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49
Q

Patient can’t fit in her shoes or put on her wedding ring and has prognathism,

A

Acromegalic symptoms – OGTT – (GH elevated), IGF (high through the day). Glucose normally suppresses the GH

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50
Q

Thin skin, proximal myopathy, impaired fasting glucose -> what test do you need to do to confirm

A

dexamethasone suppression test

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51
Q

Pt with ↓Na, ↑K + postural hypotension what test do you need to do to confirm

A

short synACTHen test. This is addisions, one causes of hyperkalemia (renal failure, drugs. adrenals)

Addison’s disease: investigations

In a patient with suspected Addison’s disease the definite investigation is a ACTH stimulation test (short Synacthen test). Plasma cortisol is measured before and 30 minutes after giving Synacthen 250ug IM. Adrenal autoantibodies such as anti-21-hydroxylase may also be demonstrated.

If a ACTH stimulation test is not readily available (e.g. in primary care) then sending a 9 am serum cortisol can be useful:

> 500 nmol/l makes Addison’s very unlikely

< 100 nmol/l is definitely abnormal

100-500 nmol/l should prompt a ACTH stimulation test to be performed

Associated electrolyte abnormalities are seen in around one-third of undiagnosed patients:

  • hyperkalaemia
  • hyponatraemia
  • hypoglycaemia
  • metabolic acidosis
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52
Q

Patient with low sodium, potassium: normal, low plasma osmolality and urine osmolality was 70

A

water deprivation test

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53
Q

To distinguish if it is cranial or nephrogenic diabetes insipidus you do

A

Vasopressin test

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54
Q

Polyuria, polydipsia, hyponatraemia and high ish serum osmolality -> blood glucose, as high lipids can cause pseudohyponatraemia.

A

OGGT

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55
Q

Impaired fasting glucose -

A

6.1-6.9

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56
Q

Impaired glucose tolerance -

A

2 hours post glucose ≥7.8 and <11.1

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57
Q

Diabetes - fasting glucose

A

fasting glucose ≥7.0, or 2 hour glucose ≥11.1. you do OGGT if fasting is less <7 mMN ○ Need symptoms + one of these tests OR ○ Both of these tests ○ WHO also recommends HbA1c ≥48

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58
Q

Rate limiting enzmye in Haem synthesis

A

ALA synthase

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59
Q

Deficiency resulting in urate overproduction

A

-linked HGPRT = Leach Nyhan (self mutilating, choreiform movements, mentally retarded, gout)

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60
Q

Seen in the kidney of someone with T1DM - renal sclerosis

A

AA

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61
Q

Emphysema in someone who hasn’t smoked

A

A1AT deficiency

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62
Q

Raised in someone with mumps

A

amylase

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63
Q

Boys with the salt-losing form typically present at 7-14 days of life with vomiting, weight loss, lethargy, dehydration, hyponatraemia and hyperkalaemia and can present in shock.

A

CAH – salt losing crisis (21 hydroxylase deficiency – presents at birth)

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64
Q

ALP + pain defecating

A

metastases

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65
Q

Fatty acid oxidation defects testing

A

blood spot for acylcarnitine profile

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66
Q

You take a urine sample from a hypoglycaemic neonate.Lab tells you amount of urine is not enough to do all tests. Which test/substance would you want to rule out ASAP?

A

Galactosaemia - commonest is Gal-1-PUT and is also the most severe

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67
Q

Vomiting since 5 years of age, followed by the failure to thrive.

A

Tyrosinaemia

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68
Q

Diarrhoea and bloody stools, vomiting, poor weight gain, extreme sleepiness, irritability, ‘cabbage like odour’ to skin or urine

A

Tyrosinaemia

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69
Q

Succinylacteonate is pathognomic

A

of tyrosinaemia

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70
Q

Muscular hypotonia, seizures, hepatic dysfunction, dysmorphia

A

Perioxisomal - disorders in metabolism of very long chain fatty acids

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71
Q

Perioxisomal disorders have LD and more eye signs

A

Zellweger

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72
Q

inverted nipples and subcutaneous fat pads-lipodystrophy

A

Glycosylation

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73
Q

cherry spot’ on the retina

A

Tay-Sachs

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74
Q

fat accumulation in the liver

A

Gaucherie Disease

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75
Q

Encephalopathy, respiratory alkalosis and irreversible neurological damage

A

Urea cycle

76
Q

Encephalopathy, respiratory alkalosis and irreversible neurological damage: ○ High ammonia

A

the first test you would order

77
Q

sweet smelling urine, also smell of ear wax, seem healthy at birth but quickly deteriorate with severe brain damage during times of metabolic crisis & can die of cerebral oedema. Also build-up of leucine, isoleucine and valine.

A

Maple syrup urine disease

78
Q

presents in early childhood, some remain completely asymptomatic; presents with metabolism is stressed

A

Acylcarnitines are elevated

79
Q

excessive glycogen storage and prevents glucose export from gluocneogenetic organs. Present with hepatomegaly and splenomegaly, and ‘doll like faces’’

A

Von Gierke’s;

80
Q

○ Classically chronic muscle weakness with hyperlactataemia ○ Elevated lactate after periods of fasting (overnight), elevated CK, CSF protein is raised in

A

Kearns-Sayre

81
Q

How do we define osteporosis?

A

T score <-2.5

82
Q

How do we define osteopenia?

A

T-score -1.0-2.5

83
Q

What is T-score?

A

T-score is being used from a healthy population of patients

84
Q

What are the symptoms of high calcium?

A

Constipations, Poluria, Polydypsia, Neuro, Seizures, Comas

85
Q
  1. Low Na, high K, high urea, increased plasma osmolality and increased urine osmality indicated for
A

the renal cause of hyponatremia, CKD

86
Q

Q) What are the criteria for SIDAH?

A
  • Hyponatremia
  • Plasma Osmolality <270 mMol/L
  • Urine Osmolality>100 mMol

-high Urine Na > 20 mMol

  • Euvolemia
  • No renal adrenal, thyroid dysfunction
87
Q

baby, hypotensive, hypotension, alkalosis

A

BAtter syndrome, defect in TAL loop of Henle

88
Q

What factors lead to hyperkalemia ?

A

Addison

ACE inhibitors

Renal faulre

Potassium sparring diuretics

89
Q

What causes hyperkalemia in the presence of low aldosterone?

A

ACE inhibtors

90
Q

low pH with hypokalemia

A

renal tubular acidos

is

91
Q

ALT, AST (in thousands) high both the same increaseed GGT AST:ALT<1

A

NAFLD

92
Q

very high ALP (hundreds), AST and ALT elevated, GGT elevated, high bilirubin

A

Gallstones

93
Q

total bilirubin elavted

Raised unconjugated bilirubin - all else normal

A

Gilbert

94
Q

AST, ALT super high, ALP also high

A

Paracetamol overdose

95
Q

high GGT (hundred) and ALP

A

Alcohol abuse

96
Q

bilirubin <100, raised ALT, AST and GGT, bile salts >10

A

Intrahepatic cholestasis (pregnancy):

97
Q

raised ALT and AST

A

Cirrhosis

98
Q

very high ALT and AST, ALT>AST

A

Viral hepatitis

99
Q

AST: ALT >2.5

A

Alcoholic hepatitis:

100
Q

20 year old student with two weeks anorexia, fever and malaise - raised ALT, normal ALP and GGT.

A

Infectious mononucleosis

101
Q

Isolatted GGT

A

enzyme inducing drugs

102
Q

raised conjugated bilirubin

A

Dubin Johnson

103
Q

very high constant unnjocugated hyperbilibuinamiea

A

Criglet-Najar

104
Q

increased alpha-fetoprotein

A

hepatocellular carcinoma

105
Q

Familial hypercalcaemia

A

abnormal secretion of thePTH despite high Calcium, results in the mutation of the recptor located on the kidneys and parathyroid glands (mutated receptor on both).

THIS WILL BE HYPOCALCURIS STATE LEADING TO REDUCE CALCIUM

106
Q

The most common cause of secondary hyperparathyroidism

A

chronic renal failure

107
Q

Autonomus productio of PTH causes hypercalcemia

A

tertiary hyperparathyroidism

108
Q

resistance to PTH, high PTH, high Phospate, hypocalcemia

A

pseudohypoparathyroidism

109
Q

ataxia and areflexia in cystic fibsosis patient is caused by which vitamin deficency ?

A

vitamin K

110
Q

what sort of anemia is causing B6 deficency?

A

sideroblastic anemia

111
Q
A
112
Q

brittle hair and seizures

A

homocytinuria

113
Q

developmental delay and musty smell also eczema

1) when was this child born?

A

phenylketonuria

114
Q

baby with enlarged liver, kidneys and hypoglcemia

A

von Gieerke

115
Q

baby with sweaty feet

A

maple syrup disorder

116
Q

cheery spot on the trunk

A

Fabry

117
Q

hypotension, ataxia, heart block are consequency of which drug toxicity

A

Phenytoin - antieplieptic

118
Q

diarrohoea, vomitting, tremor and signs of which drug toxicity

A

Lithium

119
Q

the tocxic effects of this drug are potentiated by cipro or erythromycin

A

theophylline

120
Q

the potassium you would see in untreated DKA

A

high

121
Q

calculate osmolarity

A

2(Na + K) + urea + glucose

122
Q

calculate anion gap

A

(Na + K ) – (Cl+HCO3-)

123
Q
  • what would bicarbonate be in pyloric stenosis is hypochloremic hypokalemic metabolic alkalosis
A

(40)

124
Q
  • What would the glucose be in someone with Impaired Glucose Tolerance, 2hr after a OGTT
A

Impaired glucose tolerance (IGT) is defined as fasting plasma glucose less than 7.0 mmol/l and OGTT 2-hour value greater than or equal to 7.8 mmol/l but less than 11.1 mmol/l

125
Q

Low Na, high K, high urea, increased plasma osmolality and increased urine osmality

A

renal cause of hyponatremia

126
Q

Markers of synthetic function:

A

Clotting albumin and PT

127
Q

Impaired fasting glucose -

A

6.1-6.9

128
Q

Impaired glucose tolerance

A

2 hours post glucose ≥7.8 and <11.1

129
Q

diabetes definition

A
  • fasting glucose ≥7.0, or 2 hour glucose ≥11.1. you do OGGT if fasting is less <7 mMN
    • Need symptoms + one of these tests OR
    • Both of these tests
    • WHO also recommends HbA1c ≥48
130
Q

What is the normal range of anion gap?

A

The normal range = 10-18 mmol/L

131
Q
  • T1DM (DKA) (↑K, ↓Na, ) – (↓Cl, + bicarbonate: (BG)) > 12 mmol/L. (anion gap) normal
A

Respiratory alkalosis, hyperventilation caused by hypoglycaemia

132
Q

metabolic acidosis, high anion gap -

A

DKA

133
Q
  • Hyperosmolar hyperglycaemic state (HHS) is confirmed by:
A
  • Dehydration
  • Osmolality >320mosmol/kg
  • Hyperglycaemia >30 mmol/L with pH >7.3, bicarbonate >15mmolL and no significant ketonenaemia <3mmol/L
134
Q

A low urine osmolality high serum osmolality (±↑Na, ↑±Ca, ↓±K)

A

Diabetes Insipidus

135
Q

Q) What atre the causes of hyperkalemia?

A

Renal problem

Drugs: spironolactone ACE inhibitors Angitensin recptor blocage like Lozartan

Low aldersrone (Addison Disease)

type IV renal tubular acidosis (low renin, low aldosterone)

136
Q

How would you manage a patient with hyperkalemia?

A
  • 10 ml 10% Calcium glucoganate to stabilise the heart
  • 50% 50 ml glucose plus 10 units of insulin
  • nebulised salbutammol
137
Q

How does loop diuretics and Batter syndrome lead to hypokalemia?

A

Increased Na delivery to the distal nephron

138
Q

What are the causes of hypokalemia?

A
  • GI loss
  • Renal loss (hyperaldosteroidism, increased Na delivery to the distal nephron, osmotic diuresis)
  • Redistribution of the insulin into the cells:
  • insulin, beta aginist, alkalosis

Rare causes: renal tubular aicdosis, 1, 2 hypomagnesemia

-

139
Q

How would you manage the patient with hypokalemia

K 3-3.5

A

two Sandok tablets

140
Q

How would you manage the hypokalmeic patient with serum K < 3.0 mmol/L

A

IV K chlorride

10 mmol/hour

141
Q

Hypokalemia is a side effect of which drug?

A

Frusemide

142
Q

Hyperkalemia is side effect of which commonly presribed drugs?

A

Ramipril, Losartan, sprironolactone

143
Q

Which drugs are causing SIDAH?

A

STOCK

SSRI

TCA

Opiates

Carbamazepine

144
Q

What are the causes of hypernatremia (rare)?

A

GI loses

sweatings

Renal causes

  • osmotic diuresis
  • disbetes inispidius
145
Q

What is the most reliable method to establish hyponatremia?

A

low urinary sodium

146
Q

•How would you manage a hypovolaemic patient with hyponatraemia?

A

Volume replacement with 0.9% saline

147
Q

•What is the most important point to remember while correcting hyponatraemia?

A

–Serum Na must NOT be corrected > 8-10 mmol/L in the first 24 hours

Why?

Due to risks of central pontine myelinosyits

148
Q

Drugs used to treat SIADH if water resitriction is insufficent?

A

•Demeclocycline

–Reduces responsiveness of collecting tubule cells to ADH

–Monitor U&Es (risk of nephrotoxicity)

•Tolvaptan

–V2 receptor antagonist

149
Q

•What is the first step in the clinical assessment of a patient with hyponatraemia?

A

B.1st Clinical assessment of volume status

A.2nd Measure plasma & urine sodium

150
Q

What tests would you use for the diagnosis of agromelay?

A

OGGT and IGF

Oral glucose tolerance test

in normal patients GH is suppressed to < 2 mu/L with hyperglycaemia

in acromegaly there is no suppression of GH

may also demonstrate impaired glucose tolerance which is associated with acromegaly

151
Q

everything normal but decreased bone mineralisation; ALP can be raised if recent fracture

A

osteoporosis

152
Q

low calcium and phosphate, high ALP and PTH

A

osteomalacia

153
Q

High calcium, PTH supressed, increased ALP

A

malignancy

154
Q

no longer sensitive to PTH so high PTH despite high calcium

A

Tertiary hyperparathyroidism -

155
Q

low calcium and PTH was in the normal range [but you expect it to be low

A

hypoparathyroidism

156
Q

10 year old with seizures- Low Ca, low PO4 , High PTH

A

rickets

157
Q

Low Ca, Low PTH: Hypoparathyroidism

A

DiGeorge

158
Q

Band kerpatpahy of the eye is complication of whaT?

A

hypercalcemia

159
Q

Lists four complications of hypercalcemia?

A
  • Pancreatitis
  • Peptic Ulcers
  • Skeletal changes
  • Renal stones
160
Q

What test would you do to diagnose SIDAH?

A

Hyponatremia

low plasma osmolalaity

high urine osmolality

high urine sodium

euvoleia

no urine, renal, thyroid dysfunction

161
Q

low calcium, low phosphate, high PTH and high ALP

A

Vitamin D

162
Q
  • All values of pititary hormones were within normal range
A

(non-­‐functioning adenoma)

163
Q

Everything else supressed, high prolactin but less than <6000

A

non-functioning adenoma

164
Q

C-peptide levels are high:

A
  • C peptide levels are high in insulinoma, and elevated with oral sulfonylureas (stimulate insulin secretion), type 2 diabetes, indulin resitance
165
Q

C-peptides levels are low:

A

type I diabetes, exogenous insulin, liver disease

166
Q
A
167
Q
  • incomplete low glucose, insulin, C peptide, FFA and ketones
A

Non islet cell tumour (any tumor that secrets IGF-2)

168
Q

The presence of ketones in neonates suggests:

A

that the baby is premture and this might be IUGR

169
Q

The absence of ketones in neonate suggest that

A

this might inherited metabolic disorder

170
Q

low dopamine and high prolactin

A

Non-functioning pituitary adenoma

171
Q
A
172
Q

Rate limiting enzmye in Haem synthesis

A

ALA synthethase

173
Q

self mutilating, choreiform movements, mentally retarded, gout)

A

Deficiency resulting in urate overproduction –X-linked HGPRT

174
Q

What happens to the kidney of someone with T1DM

A

renal scleriosis

175
Q
  • Boys with the salt-losing form typically present at 7-14 days of life with vomiting, weight loss, lethargy, dehydration, hyponatraemia and hyperkalaemia and can present in shock.
A
  • crisis (21 hydroxylase deficiency – presents at birth)
176
Q

Woman with problems in urinating (stones) and defecating (constipation)

A
  • ALP + pain defecating =metastases
177
Q

Tests for metabolic disorders. [urine reducing substances; urine amino acids; etc]

  • You suspect Acute Intermittent Porphyria. What test? Urine sample protected from light
  • What does the Guthrie test measure? Phenylalamine
  • Urine reducing substances. Galactosemia
  • Urine amino acids. Homocystinuria Organic acidurias LIV (leucine, isoleucine, valine)
  • Fatty acid oxidation defects blood spot for acylcarnitine profile

Muscle biopsy: Glycogen storage disease

A
178
Q

Diarrhoea and bloody stools, vomiting, poor weight gain, extreme sleepiness, irritability, ‘cabbage like odour’ to skin or urine, liver issues

A

Tyrosinaemia

179
Q
  • Succinylacteonate is pathognomic
A

tyrosinaemia

180
Q
  • : large fontanelle, osteopaenia of long bones, often with calcified stippling in the patellar region
  • Very long chain fatty acid profile
A

paroximal disorders

181
Q

inverted nipples and subcutaneous fat pads-lipodystrophy

A

Glycosylation defect

182
Q

Tay (opthamologist who discovered the ‘cherry spot’

A

Tay Sachs

183
Q
  • Encephalopathy, respiratory alkalosis and irreversible neurological damage
A
  • Urea cycle
184
Q

Acylcarnitines are elevated

A

MCADD:

185
Q
  • excessive glycogen storage and prevents glucose export from gluocneogenetic organs. Present with hepatomegaly and splenomegaly, and ‘doll like faces’’
A

von gierke

186
Q
  • Classically chronic muscle weakness with hyperlactataemia

Elevated lactate after periods of fasting (overnight),

A

Kearns Sayre:

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