Chem Path hard to recall Flashcards
(208 cards)
1
Q
What liver enzyme is raised after MI?
A
AST
2
Q
Which enzyme is markedly raised in obstructive jaundice along with direct bilirubin?
A
ALP
3
Q
Which liver enzyme is most raised in alcohol abuse?
A
GGT
4
Q
What test is used for Paroxysmal nocturnal haemoglobinuria (PNH)?
A
Ham’s test
5
Q
What Ab can be looked for in T1DM?
A
Anti-GAD
6
Q
Define impaired glucose tolerance
A
Fasting: <7mmol/L
2hr: 7.8 - 11.1mmol/L
7
Q
Which liver enzyme increases in pregnancy?
A
ALP
8
Q
Lipid soluble drugs require metabolism by the liver in two phases. What is Phase I?
A
Oxidation by cytochrome P450
9
Q
Features of digoxin toxicity?
A
Arrhythmia
Anorexia, nausea and vomiting and occasionally, diarrhoea
Confusion especially in the elderly
Yellow vision (xanthopsia), blurred vision and photophobia
10
Q
Name a drug which decreased excretion, increased plasma concentration and increased risk of toxicity may occur when this taken in conjunction with thiazide diuretics
A
Lithium
11
Q
What are 2 breakdown products of cocaine?
A
EME = ecgonine methyl ester BE = benzoylecgonine
12
Q
Symptoms of ecstasy OD?
A
Hyperthermia Dilated pupils Agitation Confusion Raised urea and creatinine Raised myoglobin Hyponatraemia
13
Q
What can be tested in urine for heroin/opioid detection?
A
6-MAM
14
Q
What Tx can be used for beta blocker OD?
A
IV atropine
Glucagon
15
Q
Symptoms of TCA OD?
A
Drowsy Tachycardia Wide QRS Dilated pupils Hyperreflexia
16
Q
Symptoms of salicyclate OD?
A
Hyperventilation Nausea Sweating Ringing in the ears Metabolic acidosis
17
Q
What sample is required for use with gas chromatography mass spectroscopy?
A
Blood sample
18
Q
Which technique can be used to test for benzodiazepines and various antipsychotic drugs?
A
Liquid chromotography
19
Q
Which technique can be used to analyse samples of stool, liver and also urine?
A
Thin layer chromotography
20
Q
Which drug is not excreted into saliva?
A
THC
21
Q
What is Nelson’s syndrome?
A
An enlargement of an adrenocorticotropic hormone-producing tumour in the pituitary gland, following surgical removal of both adrenal glands in a patient with Cushing’s disease
22
Q
Levels of which steroid are raised in the serum of CAH patients?
A
17-Hydroxyprogesterone
23
Q
Increased levels of what hormone are seen in the urine of CAH patients?
A
Pregnanetriol
24
Q
The sodium and potassium pattern seen in CYP21 deficiency?
A
Hyponatreamia with Hyperkalaemia
25
How do you calculate creatinine clearance?
Creatine clearance = (creatinine's urine concentration)* (Vol) / (plasma creatinine concentration)
26
What is the gold standard for measuring glomerular filtration rate (GFR)
Inulin
27
What is A good indicator of renal function?
Serial creatinine readings
28
What enzyme is Useful in staging and monitoring treatment of extracapsular spread of prostatic carcinoma?
Acid phosphatase
29
Which enzyme rapidly rises post myocardial infarction but then rapidly declines and is a useful marker of reinfarction?
Creatine Kinase (MB)
30
A 3 year old unimmunised boy presents with Mumps. Which enzyme is likely to be raised?
Amylase
31
A 19 year old African boy presented with cervical lymph nodes, 3 month history of night sweats and a 3kg weight loss. Lymph node biopsy showed the presence of Reed-Sternberg cells loss. Following chemotherapy which enzyme would you expect to be elevated?
LDH
32
Organophosphonate poisoning symptoms? (SLUDGE)
```
Salivation
Lacrimation
Urination
Defecation
GI upset
Emesis
```
33
Antibodies associated with autoimmune hepatitis?
ASMA
| ANA
34
Which enzyme is most likely to be raised in autoimmune hepatitis?
AST
35
Which enzyme is most likely to be raised in PBC?
ALP
36
SCID is frequently caused by a deficiency in which enzyme?
Adenosine deaminase
37
A worried mother brings her obese 12 year old son to the GP, saying that he avoids exercise and has been recently found to be skipping his PE lessons. When confronted about this, the boy claimed that ‘it hurts when he exercises’. The skeptical GP was about to say ‘no pain, no gain’, when he remembered a lecture in medical school about McArdle’s glycogen storage disease (type V), which causes stiffness following exercise. He referred the boy for a muscle biopsy, which confirmed a deficiency in an enzyme involved in glycogen metabolism. Name this enzyme.
Mycophosphorylase
38
Fabry’s disease occurs due to an X-linked disorder of glycolipid metabolism due to deficiency of which enzyme?
Galctosidase A
39
A 10 year old boy is brought by his mother to your clinic. He is very thin, but has a distended abdomen. What is it that his diet does not contain to cause this?
Protein
40
A 40 year old woman is brought in by her husband. He explains that she has started getting up during the night and going for walks and then forgetting her way home. She says she has terrible diarrhoea day and night and she wakes to go to the toilet. On examination she has a tremor and you see red scaly patches on her skin. Which vitamin is she most likely to be deficient in?
Niacin
41
A 10yr old female who recently emigrated from south East Asia presents to A&E with kidney stones. While talking to the parents it is noted that she has particular problems seeing in dim light. What vitamin deficiency does she have?
Vitamin A
42
32 year old female presented with weight loss and anxiety. The thyroid gland was enlarged, firm, fleshy and pale, infiltrated by lymphocytes. Askanazy cells were noted.
Hashimoto's thyroiditis
43
A 12 yr old male presents with 1/7 of fever. Thyroid swelling and tenderness on palpation was noted. Histologically, the gland was infiltrated by neutrophils and lymphocytes. This child had not been vaccinated against the MMR. Diagnosis?
Giant cell thyroiditis
44
What is the recommended therapy used in an attack of acute intermittent porphyria?
Haem arginate
45
Anti-inflammatory drug that is contraindicated in patients with porphyria?
Diclofenac
46
Drug that can result in chronic porphyria?
Alcohol?
47
Drug recommended for management in acute attacks of anxiety.
Diazepam
48
A second drug that is contraindicated in patients with porphyria that is not an NSAID
Co-trimoxazole
49
Autosomal dominantly inherited porphyria with neurovisceral manifestations only, resulting from porphobilinogen (PBG) deaminase deficiency.
Acute intermittent porphyria
50
Neurotoxic product(s) of heme breakdown producing neurovisceral damage in certain porphyrias
5-aminolevulinic acid
51
Autosomal dominantly inherited (or spontaneous mutation) porphyria with cutaneous manifestations only, resulting from uroporphyrinogen decarboxylase deficiency
Porphyria cutanea tarda
52
Enzyme that catalyses the rate-limiting step of heme breakdown
ALA synthase
53
Product(s) of heme breakdown resulting in photosensitivity (i.e. cutaneous) damage in certain porphyrias
Activated porphyrins and oxygen free radicals
54
In diabetics, which substance is formed in increased quantities in cells that do not require insulin for glucose uptake? It is injurious to those cells:
Sorbitol
55
2 examples of localised amyloidosis?
Alzheimer's
| T2DM
56
What 3 hormones are given in combined pituitary function test?
GnRH
TRH
Insulin
57
A 6 year old boy presents with episodic abdominal pain and recurrent acute pancreatitis. The plasma is found to have a milky appearance and chylomicrons are found in the plasma following a period of fasting. What deficiency does he have?
Lipoprotein lipase deficiency
58
Lipid profile in alcohol abuse and why?
Decreases fatty acid oxidation
High HDL
High VLDL
59
Lipid profile in nephrotic syndrome and why?
Apolipoprotein A is lost (hence low HDL) and there is a compensatory increase in apolipoprotein B100 hence
High VLDL
High LDL
60
Lipid profile in diabetes and renal failure and why?
Not enough active lipoprotein lipase to chop off triglyceride
High VLDL
Low HDL
61
Lipid profile in hypothyroidism and why?
Apo receptor on liver doesn't function properly
High VLDL
High LDL
62
Function of lipoprotein lipase?
enzyme present on vascular endothelium,
etc, which is involved in the breakdown of Triglycerides (TG) from lipoproteins such as VLDL into fatty acids and glycerol so that TG can be taken into cells
63
Function of cholesterol ester transferase?
transfer cholesterol esters from HDL to IDL or LDL
64
Lipid profile in biliary obstruction?
high VLDL, LDL and HDL
65
Which molecule is formed by the gut after a meal and is the main carrier of dietary triglycerides?
Chylomicron
66
What is the smallest lipoprotein which carries cholesterol from extra-hepatic tissues to the liver for excretion?
HDL
67
Which molecule is present in the fasting state in cases of lipoprotein lipase deficiency?
Chylomicron
68
The first intermediate formed after VLDL particles synthesised by the liver are degraded?
Intermediate density lipoprotein
69
How do daily requirements of water for neonates compare with those of adults?
> 6 times adult requirements
70
High fluid intake in neonates during the first week of life is associated with increasing frequency of which condition.
Necrotising enterocolitis
71
Pseudo vitamin D deficiency 1 is associated with which defect.
Defect in renal hydroxylation
72
What could be going on in a child with x-ray features of vit D deficiency (metaphyseal flaring and osteopaenia) but a LOW ALP?
Hypophosphatasia
73
A 3-week-old male is seen by a paediatrician because of severe jaundice that appeared at birth and has been worsening ever since. Dx?
Crigler-Najjar syndrome
74
A young boy presents to his GP with jaundice. He is also found to have haemoglobinuria, splenomegaly and anaemia. His mother reveals that he was jaundiced at birth and needed a blood transfusion. Dx?
G6PD deficiency
75
A 15-month-old boy is brought to the paediatric clinic by his parents because of delayed dentition, poor growth and development, frequent crying, weakness, and constipation. Dx?
Rickets
76
A 18 month old male is brought to the paediatrician by his mother because of repeated, self-mutilating biting of his fingers and lips and delayed motor development. The patient’s mother has also noticed abundant, orange-coloured “sand” (uric acid crystals) in the child’s nappies. Dx?
Lesch-Nyhan syndrome
77
What 2 things does the Guthrie test check for?
PKU
| Hypothyroidism
78
First line screen for inherited metabolic disorders?
Plasma and urine amino acids
79
A 2-month Canadian neonate presents with failure to thrive, jaundice and sepsis. Which inherited metabolic disorder might he have?
Type 1 tyrosinaemia
80
A male infant presents with failure to thrive, neurological signs (including tremor) and tachypnea. From our metabolic disorders screen, which 1st line test is likely to be abnormal?
Plasma ammonia
| Likely to have a urea cycle defect
81
A neonate has seizures, conjugated hyperbilirubinaemia and the 3rd year med student’s clinical observation is that “he looks weird!” From our metabolic disorders screen, which 1st line test is likely to be abnormal and what kind of inborn metabolic disorder might he have?
Very long chain fatty acids
| peroxisomal disorder of glycosylation
82
A post mortem diagnosis of an inborn error of metabolism is investigated in a case of “sudden infant death”. What deficiency is the most likely cause?
Medium chain acyl coA dehydrogenase
83
A neonate with a history of feeding difficulties presents with jaundice, cataracts and sepsis. What deficiency is the most likely cause?
Galactase-1-phosphate uridyl transferase
84
Chronic renal failure is one of the commonest causes of hypercalcaemia. What is the commonest cause of end stage renal failure in Europe?
DM
85
A 37 year old man has a round face, short metacarpals and metatarsals. He complains of mild depression and has a carpopedal spasm. Plasma PTH is raised and alk phos is slightly raised too. Dx?
Albright's hereditary osteodystrophy
86
What type of hyperparathyroidism does Albright's hereditary osteodystrophy cause and why?
pseudohyperparathyroidism - receptor insensitivity to PTH i.e. end organ resistance to PTH
87
A 24 year old man presents with pain and stiffness in his buttocks and lower back which is worse when he wakes up in the mornings, but eases after he has gone to the gym. On further questioning he reveals that he has had 2 similar episodes in the past. Dx?
Ankylosing spondylitis
88
What is the major antagonist of serine proteases at a site of injury?
Alpha-1-antitrypsin
89
Which is associated with type 1 hypersensitivity?
IgE
90
Increases of what is a cardiovascular risk factor?
CRP
91
A 60 year old male presents to his GP with symptoms of tiredness, dizziness and loss of vision. He has lymphadenopathy and splenomegaly. Serum electrophoresis shows an IgM spike. Dx?
Waldenstrom's macroglobulinaemia
92
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. Dx?
Amyloidosis
93
What mutation is involved in tangier disease?
ABCA1 gene
94
Presentation of tangier disease and blood results?
Hepatomegaly, splenomegaly, or classically as enlarged orange tonsils in children
Low blood HDL levels
95
What score, derived from a DEXA scan, describes how a patient’s bone mass varies compared to an age matched control?
Z score
96
What is the name of the cholesterol transport channel targeted by the drug Ezetimibe? Where is it found?
NPC1L1 (Niemann-Pick C1-like 1) transporter
| Found on epithelial cells of the GI tract and hepatocytes and is involved in the absorption of cholesterol from the gut
97
A 38 year old man with hypertension has high plasma sodium and low plasma potassium. He is diagnosed with Conn’s syndrome. What is the likely result of an Aldosterone:Renin ratio in this patient?
Elevated
98
In the liver which cytochrome P450 enzyme catalyses the first step in the formation of bile acids via the classical pathway? AKA the rate-limiting step
Cholesterol 7 alpha-hydroxylase
99
An obese patient is hypocalcaemic, has an elevated serum phosphate and has an elevated parathyroid hormone (PTH). Upon examination you notice they have short 4th and 5th metacarpals. What is the most likely diagnosis?
Albright hereditary osteodystrophy
100
What does Albright hereditary osteodystrophy cause?
Pseudohypoparathyroidism
101
In de novo purine synthesis, what kind of feedback do guanylic acid (GMP) and adenylic acid (AMP) have on the enzyme PAT?
Negative
102
Which enzyme forms the rate limiting step in de novo purine synthesis?
PAT
103
Purines can be made via a de novo synthesis pathway.
| What is the name of the other pathway by which purines can be made?
Salvage pathway
104
A patient’s blood tests have returned and show they have a low serum sodium level. What investigation should be done to determine if this is a true hyponatraemia?
Serum osmolality
105
Where in the gut are bile acids reabsorbed?
Terminal ileum
106
What enzyme does Allopurinol inhibit to reduce urate synthesis?
Xanthine oxidase
107
A 24 year old lady is referred to a cardiologist. She has irregular yellow growths on her hands and one on her achilles tendon. The cardiologist informs her she has premature atherosclerosis. Blood tests show grossly raised levels of plant sterol in her blood. Which autosomal recessive disorder does she most likely have?
Phytosterolemia
| ABCG5
108
In familial hypocalciuric hypercalcaemia (FHH), which receptor has suffered a mutation?
Calcium Sensing Receptor
109
Cholestyramine is a cholesterol lowering drug. What does Cholestyramine bind to in the gut in order to cause the liver to break down more cholesterol?
Bile acids
110
In bile acid synthesis Acyl-CoA cholesterol acyltransferase (ACAT) is the enzyme that converts cholesterol into what?
Cholesterol ester
111
What enzyme would you classically expect to be raised in Paget’s disease of bone?
Alkaline Phosphatase
112
The van den Bergh reaction is used to measure serum bilirubin via fractionation. What kind of bilirubin is measured with the direct reaction?
Conjugated
113
What is the gold standard investigation for quantification of urinary protein loss, not typically performed in clinical practice?
24 Hour Urine Collection
114
In sarcoidosis, production of which enzyme by granulomatous tissue can lead to hypercalcaemia?
1 alpha hydroxylase
| PTHrP is another mechanism
115
A 14 month old boy presents showing signs of delayed motor development and self-mutilation of the lips and fingers. He is found to have hyperuricaemia.
What is the condition and what enzyme is deficient in this condition?
Lesch Nyhan syndrome
| HGPRT
116
Lomitapide is a low density lipoprotein lowering drug.
| What protein does Lomitapide inhibit?
Microsomal triglyceride transfer protein
117
Which protein, found in blood plasma, exchanges triglycerides and cholesterol esters between lipoproteins?
Cholesteryl ester transfer protein (CETP)
118
Name a drug used in the treatment of non-acute gout to reduce urate levels by increasing the fractional excretion of uric acid?
Probenecid
119
In a patient with pseudopseudohypoparathyroidism, what would you expect the serum calcium level to be?
Normal
120
A 29 year old man presents with eruptive xanthomas and a yellow discolouration to the palm. Blood tests reveal high total cholesterol and triglyceride levels. Genetic studies reveal ApoE2. What is the diagnosis?
Type 3 hyperlipoproteinemia
121
A 26 year old man presents to his GP with a yellow nodule on his achilles tendon. You notice a bluey grey ring around his cornea and yellow irregularly shaped deposits around his eyelids. Low density lipoprotein (LDL) is raised whereas high density lipoprotein (HDL) and triglycerides are normal. Genetic studies reveal a LDL receptor mutation. What is the diagnosis?
Familial Hypercholesterolemia
122
ecg signs of hyperkalaemia?
```
Bradycardia
Loss of p waves
Prolonged pr interval
Broad QRS
Tented T waves
Junctional or escape rhythms
```
123
What is defined as a severe hypocalcaemia and what would you treat it with?
Corrected calcium <1.9
| IV calcium gluconate
124
Definition of DKA?
Ketones >3
pH <7.3
BM >15
125
What glucose level is needed for HHS?
BM >30
126
Which type of T2DM medication can cause a euglycaemic DKA and why?
SGLT2 inhibitors
They fast pre-operatively but still take their SGLT2 inhibitor --> this causes glucose to be peed out and also stimulates glucagon release which increases glucose
They are fasted before and after operation so they get an absolute insulin deficiency --> go into DKA
127
Equation for anion gap and normal value?
Anion gap = Na + K - Cl - Bicarb
| Normal = 14-18mM
128
Causes of raised anion gap?
Ketoacidosis - DKA, alcoholic, starvation
Uraemia - renal failure
Lactic acidosis
Toxins - Ethylene glycol, methanol, paraldehyde, salicyclate
129
Types of hyponatraemia?
Hypovolaemic
Euvolaemic
Hypervolaemic
130
Causes of hypovolaemic hyponatraemia?
D&V
Diuretics
Salt losing nephropathy
131
Causes of euvolaemic hyponatraemia?
Hypothyroidism
Addison's
SIADH
132
Causes of hypervolaemic hyponatraemia?
CCF
Liver failure
Renal failure
133
Causes of hypernatraemia?
```
D&V
Uncompensated losses - dementia, fasting for surgery
Diabetes insipidus
Conn's
Iatrogenic
```
134
Causes of hypokalaemia?
GIT losses: vomiting, diarrhoea
Redistribution into cells: insulin, salbutamol, alkalosis
Renal losses: Conn’s, loop diuretics, Bartter’s syndrome, thiazide diuretics, Gitelman syndrome, renal tubular acidosis
Very poor dietary intake
135
Causes of hyperkalaemia?
Extracellular shift
- Acidosis
- Rhabdomyolysis
Decreased excretion
- Renal: AKI, CKD
- Drugs: spironolactone, ACE inhibitors
- Addison’s
136
Indications for dialysis?
```
Acidosis (metabolic)
Electrolytes (refractory hyperkalaemia)
Ingested toxins
Overload (pulmonary oedema)
Uraemia (symptomatic)
```
137
Criteria for HHS?
pH >7.3
Osmolarity >320mOsm
BM >30mM
138
Causes of pseudohyponatraemia?
Hyperlipidaemia
| Hyperproteinaemia
139
Criteria fro diagnosing SIADH?
```
Hyponatraemia <135
Plasma osmolality <270
Urine osmolality >100
Urine sodium >20
Euvolaemia
No evidence of adrenal, renal or thyroid dysfunction
```
140
Causes of redistributive hypokalaemia?
```
Insulin
Metabolic alkalosis
Adrenaline
Salbutamol
Re-feeding syndrome
```
141
Characteristics of Bartter syndrome?
Hypokalaemia
Alkalosis
Hypotenision
Hypercalcuria
142
Mutations in bartter syndrome?
NKCC2
| ROMK
143
Characteristics of renal tubular acidosis?
Acidosis
| Hypokalaemia
144
Which drugs might cause an isolated rise in GGT?
Carbamazepine
Phenytoin
Phenobarbitone
145
Which syndrome causes an unconjugated bilirubinaemia?
Gilbert's
| Crigler najjar
146
Which syndrome causes a conjugated bilirubinaemia?
Dublin Johnson
147
Features of Schmidt's syndrome? (Polyendocrine syndrome type 2)
Addison's
T1DM
hypothyroidism
148
What enzyme to measure in someone with acute parotitis?
Amylase
149
Long-term complication of b12 deficiency?
Subacute combined degenration of cord - ataxia and progressive weakness in limbs and trunk, positive babinski
150
Features of Vit C deficiency?
Bleeding gums, skin and joints
| Bone brittleness
151
Features of Vit E deficiency?
Haemolytic anaemia
| Spino-cerebellar neuropathy - ataxia and arreflexia
152
Features of Vit B6 deficiency?
Sideroblastic anaemia
| Seborrhoeic dermatitis
153
Cause of B6 deficiency?
Isoniazid tx
154
Dx of B6 deficiency?
RBC aspartate aminotransferase levels
155
Features of homocystinuria?
Fair skin
Brittle hair
Developmental delay
156
Features of PKU?
Fair skin
Developmental delay
Low IQ
157
Features of Von Gierke's disease
Hypoglycaemia
Hepatomegaly
Kidney enlargement
158
Features of maple syrup urine disease?
```
Lethargy
Poor feeding
Hypotonia
Sweet odour
Sweaty feet
```
159
Pathognomonic feature of lyosomal storage disorders and give an example of one?
Cherry red spot
| Fabry's disease
160
Features of Fabry's disease?
Developmental disease + dysmorphia
| May be organomegaly
161
When do features arise in galactosaemia?
After milk ingestion
162
Features of phenytoin toxicity?
Hypotension
Heart block
Ventricular arrhythmias
Ataxia
163
Features of lithium toxicity?
D&V
Dysarthria
Coarse tremor
164
Features of gentamicin toxicity?
Ototoxic
| NEphrotoxic
165
Features of digoxin toxicity?
```
Tiredness
Blurred vision
Nausea and abdo pain
Renal failure
Prolonged PR interval
Bradycardia
```
166
Features of theophylline toxicity?
```
nausea
diarrhoea
tachycardia and arrhythmia
headaches
seizures
```
167
Which drugs potentiate theophylline toxicity?
Erythromycin
| Ciprofloxacin
168
Features of procainamide toxicity?
Drug induced lupus
rash
fever
agranulocytosis
169
Features of carbamazepine toxicity?
```
headache
ataxia
abdo pain
SIADH
aplastic anaemia
```
170
What is the effect of alkalosis on the urine pH and why does this happen?
Paradoxical aciduria
Low plasma hydrogen ions leads to increased potassium uptake into cells and hypokalaemia
To maintain homeostasis potassium is exchanged for hydrogen ions in DCT (hydrogen excreted) causing aciduria
171
Terrible 3 C's which cause aplastic anaemia?
Carbamazepine
Chloramphenicol
Carbimazole
172
How can SIADH be remembered?
2 low in blood
2 high in urine
3 exclusions everywhere else
1. 2 low in blood - hyponatraemia + hypoosmolar
2. 2 high in urine - hypernatraemia >20 + high osmolality
3. No renal/adrenal/thyroid disease + No hypovolaemia + no drugs contributing
173
Difference between SIADH and cerebral salt wasting syndrome?
Primary event in SIADH is high vasopressin release
| Primary event in CSW is high renal sodium loss (ANP)
174
Features of Albright's hereditary osteodystrophy?
```
Short height
Short 4th and 5th metacarpals
Low intelligence
Basal ganglia calcification
DM
obesity
Hypogonadism
Hypothyroidism
```
175
Blood results of pseudohypoparathyroidism? Why does it occur?
High PTH
Low Calcium
High Phosphate
PTH receptor insensitivity in PCT
176
What is pseudopseudohypoparathyroidism?
| Blood results?
Normal biochemistry
| Similar features to pseudohypoparathyroidism due to genetic imprinting
177
How to test for thiamine deficiency?
RBC transketolase activity
178
How to test for riboflavin deficiency?
RBC glutathione reductase assay
179
Effect of ischaemia on potassium?
Raises potassium
180
Effect of Addison's on calcium?
Hypercalcaemia
181
2 drugs classically associated with nephrogenic diabetes insipidus?
Lithium
| Demeclocycline
182
Causes of Conn's syndrome?ABCD
Adrenal adenoma
Bilateral nodular hyperplasia
Carcinoma of adrenals
Defective gene (GRA)
183
CAT MUDPILES causes of metabolic acidosis with raised anion gap?
```
C - CO, Cyanide, Congenital HF
A - Aminoglycosides
T - Teophylline
M — Methanol
U — Uremia (chronic kidney failure)
D — Diabetic ketoacidosis
P — Paracetamol
I — Infection, Iron, Isoniazid, Inborn metabolism error
L — Lactic acidosis
E — Ethylene glycol
S — Salicylates
```
184
What does metabolic acidosis with a normal anion gap imply?
Loss of bicarb
| Ingestion of hydrogen
185
What does a raised osmolar gap suggest?
```
Ethanol
Methanol
Ethylene glycol
Acetone
Lactic acidosis
DKA
Chronic renal failure
```
186
Why does myeloma not cause a raised ALP?
Directly stimulates osteoclasts - no effect on osteoblasts
187
RFs for osteoporosis?
```
BMI <22
Crohn's
Rheumatoid
Ank spond
Prolonged immobility
Premature menopause
```
188
Causes of raised ALP?
Liver - cholestasis, hepatitis, fatty liver
Drugs - phenytoin, carbamazepine, erythromycin
Bones - Paget's, vit D deficiency
Cancer
189
Classic rash in pellagra (niacin deficiency)?
Erythematous, pigmented rash in necklace distribution
190
4D's of pellagra?
Dementia
Diarrhoea
Dermatitis
Death
191
Features of glycogen storage disorder type 1? GLUT
Glucose low
Lactic acidosis
Urate high
Triglycerides high
192
A 43 year old lady with Type II Diabetes and previous suicidal ideation presents to A&E confused and drowsy. She is fluctuating in and out of consciousness.
She appears sweaty and is shaking.
Her blood sugar is 1.3 mmol/L.
She has high levels of insulin and a high C-peptide level.
What investigation should be performed to exclude a factitious hypoglycaemia?
Blood sulfonylurea levels
193
What vitamin converts cyanide to a renally cleared, less toxic, metabolite and is the first line medication for cyanide poisoning?
Hydroxocobalamin
194
What kind of inheritance is shown by the Multiple Endocrine Neoplasia syndromes?
Autosomal dominant
195
A 9 year old boy presents to the GP with enlarged orange coloured tonsils. Examination elicits a peripheral neuropathy and blood tests show very low plasma HDL levels. What is the most likely diagnosis?
Tangier disease
196
What class of drug must not be co-administered with azathioprine in individuals with TPMT deficiency, else a potentially fatal buildup of toxic metabolites may occur?
Xanthine oxidase inhibitors
197
Which term is used to describe increased bone density?
Osteosclerosis
198
Looser’s zones are a pathognomonic X-ray finding of which condition?
Osteomalacia
199
A 16 year old presents to A&E following an overdose of medications from the family medicine cabinet 4 hours ago. His mother says he took 20 of her antidepressant tablets. Observations show he is tachycardic and hypotensive with a GCS of 14. He has dilated pupils, an ataxic gait and has very flushed hands and feet. He says he feels very thirsty and has a dry mouth. An ECG shows first degree heart block with tachycardia. What class of medication is he likely to have overdosed on?
TCA
200
What is the most common cause of hypocalcaemia in the community?
Vit D deficiency
201
What is the most common cause of hypercalcaemia in the community?
Primary hyperparathyroidism
202
What is the most common cause of hypercalcaemia in the community?
Caeruloplasmin
203
Which hormone released from fat cells has hypothalamic receptors?
Leptin
204
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33. 60 y/o man with BMI of 28 is referred with abdo pain. Investigations:
ALP 650 (most raised result)
ALT 145 (high)
AST 100 (high)
GGT 171 (high)
CK 254 (high)
What is the most likely diagnosis?
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Gallstones
205
What is a cause of increased insulin sensitivity?
ACTH deficiency
206
Which of the following can cause hypoglycaemia?
a. Atorvastatin
b. Bendrofluazide
c. Glucagon
d. Prednisolone
e. Quinine
Atorvastatin
207
40. Which of the following findings is consistent with moderate alcohol intake?
a. Reduced albumin
b. Elevated HDL
c. Nearly normal AST
d. Normal GGT
e. Normal triglycerides
Elevated HDL
208
42. Which of the following would be consistent with obstructive jaundice?
a. Normal ALP
b. Normal AST
c. Normal GGT
d. Dark stools
e. Increased bilirubin in the urine
Increased bilirubin in urine
