Chem path Flashcards
(262 cards)
1
Q
What is the most potent LDL lowering drug and what mechanism does it use?
A
evolocumab - a PCKS9 inhibitor.
2
Q
features of familial hypercholesterolaemia
A
blue/grey ring around the cornea (corneal arcus)
yellow nodules (xanthomas) on tendons and around eye lids
high LDH
3
Q
How are fractions of bilirubin measured?
A
van der Bergh reaction
4
Q
the direct reaction of the van der Bergh reaction measures?
A
conjugated bilirubin
5
Q
the complete reaction of van der Bergh measures?
A
total bilirubin
6
Q
the indirect reaction of can der Bergh measures?
A
unconjugated bilirubin
7
Q
what condition is due to the presence of ApoE2
A
Type 3 hyperlipoproteinemia (Familial dysbetalipoproteinaemia)
increased total cholesterol and triglycerides.
8
Q
What does a defect in CETP cause?
A
hyperalphalipoproteinemia 1 (HALP1) where there are raised levels of HDL-cholesterol.
Cholesteryl ester transfer protein (CETP) mediates the movement of cholesteryl ester from HDL into VLDL/LDL, and the movement of triglyceride from VLDL/LDL into HDL.
9
Q
What is the mutation that causes Tangier Disease?
A
ABCA1 gene.
- inability to release cholesterol from the periphery to be picked up by HDL
- hepatomegaly, splenomegaly, or classically as enlarged orange tonsils in children
- characterised by low HDL levels in the blood conferring an increased risk of cardiovascular disease.
10
Q
Which term is used to describe increased bone density?
A
osteosclerosis
e.g. XS vit D; Paget’s, hypoparathyroidism
11
Q
What is the gold standard investigation for quantification of urinary protein loss, not typically performed in clinical practice?
A
24 hour urine collection
12
Q
what feature is characteristic of chronic gout?
A
tophi
around joints and ear lobes
13
Q
Most common affected joint in gout?
A
1st metatarsophalangeal joint
14
Q
What receptor does ADH affect and where?
A
V2 receptor in the collecting duct
resulting in water reabsorption
15
Q
what is the main finding in SIADH
A
euvolaemia hyponatraemia
low serum osmolality
high urine osmolality
dx of exclusion
16
Q
what drug can be used in SIADH if it is resisitant to fluid restriction
A
tolvalptan
V2 antagonist
17
Q
three causes of euvolaemic hyponatraemia
A
SIADH
adrenal insufficiency
hypothyroidism
18
Q
three investigations to rule out euvolaemic hyponatraemia
A
urine and serum osmolality
short synacthen
TFTs
19
Q
first line drug for SIADH
A
demecleocycline
20
Q
how is Lesch Nyhan syndrome inherited?
A
x-linked recessive
21
Q
features of Lesch Nyhan syndrome
A
developmental delay
self mutilation
young boy
hyperuricaemia
22
Q
Treatment plan for hyperkalaemia
A
IV calcium gluconate (cardiac membrane)
IV insulin with dextrose (drive K+ into cells)
Treat underlying cause
23
Q
What type of DI is lithium therapy associated with
A
nephrogenic
24
Q
Features of RTA 1
A
Type 1 (Distal Renal Tubular Acidosis)
Profound metabolic acidosis
Hypokalaemia
Renal stones (more alkaline urine means calcium precipitates more easily)
Failure of alpha intercalated cells to secrete H+ and resorb K+
25
Metabolic change in RTA 1
metabolic acidosis
26
Potassium in RTA 1
hypokalaemia
27
mechanism of RTA 1
Failure of alpha intercalated cells to secrete H+ and resorb K+
28
Features of RTA 2
Type 2 (Proximal Renal Tubular Acidosis)
Moderate metabolic acidosis
Hypokalaemia
Failure of proximal tubular cells to reabsorb HCO3-
29
Metabolic change in RTA 2
moderate metabolic acidosis
30
potassium in RTA 2
hypokalaemia
31
mechanism of RTA 2
Failure of proximal tubular cells to reabsorb HCO3-
32
features of RTA 4
Type 4 (Hyperkalaemic RTA)
Adrenal failure
Mild reduction in serum pH
Hyperkalaemic
Caused by a deficiency of aldosterone
33
potassium in RTA 4
hyperkalaemia
34
mechanism of RTA 4
aldosterone deficiency/ Addisons/ Adrenal failure
35
What is RTA
series of heterogenous conditions which describe the failure of the body to acidify the urine
36
What is Paget's disease of the bone?
focal disorder of bone remodelling with increased bone turnover
leads to localised areas of poorly organised bone overgrowth causing fractures and deformities
Patients may present with localised pain and warmth, loss of hearing and bowing of the legs.
37
What is the only biochemical abnormality detected in Pagets
Alkaline Phosphatase (ALP)
due to the increased action of osteoblasts.
38
ECG changes in hyperkalaemia
- tall peaked (tented) T waves
- a shortened QT interval
- loss of P waves.
can progress to sinusoidal wave
39
how do you assess for a true hyponatraemia?
serum sodium and serum osmolality
A low serum osmolality tells you this is a true hyponatraemia.
A normal or high serum osmolality tells you this is a pseudohyponatraemia.
40
What is Chvostek's sign?
Hypocalcaemia: involves tapping the facial nerve just anterior to the external auditory meatus and will cause ipsilateral contraction of the facial muscles
41
what is trousseau sign?
Hypocalcaemia: blood pressure cuff is used to occlude the brachial artery for a few minutes, may demonstrate spasms of the muscles of the hand and forearm.
42
How can rhabdomyolysis be diagnosed?
A serum creatine kinase measurement greater than 5 times the upper limit of normal
Raised serum myoglobin which leads to myoglobinuria (Dark brown urine)
43
what is a normal anion gap range
14-18
44
how do you calculate anion gap
(Na + K) - (Cl + HCO3)
45
Causes of raised anion gap
G: Glycols (ethylene glycol and propylene glycol) [overdose]
O: Oxoproline [chronic paracetamol use, usually malnourished women]
L: L-lactate [sepsis]
D: D-lactate [short bowel syndrome]
M: Methanol [overdose]
A: Aspirin [overdose. Initially causes respiratory alkalosis but in moderate/severe overdose causes metabolic acidosis]
R: Renal failure
K: Ketoacidosis [DKA, alcoholic, starvation]
KULT
K- Ketoacidosis
U- Uraemia
L- Lactate
T- Toxins: glycols, salicylates, oxoproline
46
Causes of normal anion gap
Hyperalimentation
Addison
RTA (bicarb loss)
Diarrhoea (bicarb loss)
Acetozolamide
Spironolactone
Saline (chloride gain)
47
how do you calculate osmolality
2Na + urea + glucose
48
osmolality is measured where
lab
49
osmolarity is measured where
by you
50
where is cholecalciferol converted to 25-hydroxycholecalciferol?
by what enzyme?
liver
by 25 hydroxylase
51
What HbA1c is normal?
< 42 mmol/mol
52
what is the difference in action between alendronic acid and denosumab
Bisphosphonates reduce bone turnover and hence can prevent progression of osteoporosisBisphosphonates do not directly increase bone density. The only treatment that directly increases bone density in osteoporosis is denosumab.
53
what is the MoA of orlistat
Inhibits lipases from breaking down triglycerides into free fatty acids which can then be absorbed from the gut.
A side effect of this is steatorrhoea and patients are advised to follow a low-fat diet to reduce this side effect.
54
what does a Hypoglycaemia with high insulin and low C-peptide suggest
exogenous source of insulin
55
what does a Hypoglycaemia with high insulin and high C-peptide suggest
endogenous source of insulin
- insulinoma
- inborn errors of metabolism
- sulfonylureas due to increased release of endogenously produced insulin
56
How can you exclude factitious hypoglycaemia?
A Sulfonylurea screen is useful in distinguishing an insulin-secreting tumour from surreptitious sulfonylurea ingestion.
Factitious hypoglycaemia may be caused by surreptitious use of insulin or sulfonylureas
57
ApoE4 classically gives an increased risk of developing which neurodegenerative condition?
Alzheimer's disease
58
The T score in DEXA scans describes?
how bone density varies compared to that of a young healthy population
T for Teenagers
59
The Z score in DEXA scans describes?
describes how the patient’s bone mass varies compared to an age matched control and is useful in identifying accelerated bone loss relative to age
60
Where in the gut are bile acids reabsorbed?
terminal ileum
This enterohepatic circulation of bile acids minimises the conversion of cholesterol into new bile acids.
61
how does cholestyramine work to reduce cholesterol?
binds to bile acids in the gut stopping them from being reabsorbed
liver then has to convert greater amounts of cholesterol into bile acids in order to maintain adequate secretion of bile acids into the biliary system, lowering cholesterol levels
62
Vitamin D def effect on calcium
low
63
Vitamin D def effect on phosphate
low
64
Vitamin D def effect on ALP
raised
65
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 e.g. allopurinol
results in profound leukopenia and death
66
Levels of what enzyme must be checked before starting azathioprine?
Thiopurine methyltransferase
TPMT deficiency is a congenital deficiency in an enzyme used to convert 6-mercaptopurine, a breakdown product of azathioprine, into less toxic, excretable metabolites.
Leads to a buildup of toxic metabolites that may lead to profound leukopenia and death.
67
Which enzyme forms the rate limiting step in de novo purine synthesis?
Phosphoribosyl pyrophosphate amidotransferase (PAT)
responsible for the conversion of PRPP into PRA
This is the rate limiting step in the de novo synthesis of purines.
Guanylic acid (GMP) and adenylic acid (AMP) exert negative feedback on PAT.
68
Blood tests show grossly raised levels of plant sterol in blood. Which autosomal recessive disorder do they have?
Phytosterolemia
The raised levels of non-cholesterol sterols presents with premature atherosclerosis and tendon xanthomas.
69
Which proteins are involved in regulating the absorption and excretion of cholesterol and non-cholesterol sterols.
ABCG5 and ABCG8
genes encoding transporter proteins sterolin-1 and -2 respectively
70
Causes of Fanconi syndrome
Congenital
Wilson's disease (To be even more unhelpful, Wilson's is also associated with Type 1 Renal Tubular Acidosis)
Tetracyclines
Multiple Myeloma
Lead poisoning
71
Signs and symptoms of fanconi syndrome
Polyuria, polydipsia and dehydration (due to glucosuria)
Growth failure (in children)
Metabolic acidosis (Type 2 Renal Tubular Acidosis)
Hypokalaemia
Proteinuria
Hyperuricosuria
72
what are the two ways 6-mercaptopurine are cleared from the body
TPMT and xanthine oxidase
73
Under polarised light, what colour would you expect needle shaped crystals to appear when parallel to a red filter?
orange
74
Under polarised light, what colour would you expect needle shaped crystals to appear when perpendicular to a red filter?
blue
75
in rickets, what are the bony abnormalities
Widening of the bones at the wrist and knees (sites of rapid bone growth)
bowing of the legs
76
impaired fasting glucose
fasting plasma glucose between 6.1 - 6.9 mmol/L
77
impaired glucose tolerance
2 hour oral glucose tolerance test plasma glucose 7.8 - 11.0 mmol/L.
78
why is there raised phosphate in CKD
inability to excrete phosphate
79
features of salicylate overdose
N&V
room spinning
high pitched tinnitus
tachypnoea, resp distress
fever
80
features of paracetamol overdose
abdo pain
N&V
liver damage/failure
81
ABCD of normal anion gap
Addisons
Bicarbonate loss
Chloride again
Drugs e.g. acetozolamide
82
In familial hypocalciuric hypercalcaemia (FHH), which receptor has suffered a mutation?
Calcium Sensing Receptor
In FHH a mutation of this receptor causes it to be relatively insensitive to calcium
This results in a greater release of PTH in response to a normal calcium level (overall greater calcium retention)
83
what does the Calcium Sensing Receptor regulate?
PTH release
84
where is the Calcium Sensing Receptor found
parathyroid gland
85
how can familial hypocalciuric hypercalcaemia be differentiated from primary hyperparathyroidism
calcium/creatinine clearance ratio measured from a 24 hour urine collection tends to be lower in FHH than in primary hyperparathyroidism.
86
what gene is tested for to diagnose FHH
CASR
87
What vitamin converts cyanide to a renally cleared, less toxic, metabolite and is the first line medication for cyanide poisoning?
hydroxocobalamin
88
Vitamin A
retinol
89
Vitamin B1
thiamine
90
Vitamin B2
riboflavin
91
Vitamin B3
niacin
92
vitamin B6
pyridoxine
93
vitamin B12
cobalamin
94
vitamin C
ascorbate
95
vitamin D
cholecalciferol
96
vitamin E
tocopherol
97
vitamin K
phytomenadione
98
Excess Vitamin A
Exfoliation hepatitis
99
Deficiency in Vitamin A
colour blindness
100
test for vitamin A
serum
101
deficiency in vitamin B1
Beri-Beri
Neuropathy
Wernicke Syndrome
102
test for vitamin B1
RBC transketolase
103
deficiency in vitamin B2
Glossitis
104
test for vitamin B2
RBC glutathione reductase
105
deficiency in vitamin B3
Pellagra
– 3Ds Dementia, dermatitis, diarrhoea
106
deficiency in vitamin B6
Dermatitis/ anaemia
107
excess vitamin B6
Neuropathy
108
test for vitamin B6
RBC AST activation
109
deficiency in vitamin B12
Neuropathy
sub-acute combined degeneration of the cord
110
test for vitamin b12
serum b12
111
deficiency in vitamin C
scurvy
112
excess in vitamin C
renal stones
113
test for vitamin C
plasma
114
deficiency in folate results in
neural tube defects
megaloblastic anaemia
115
test for folate
RBC folate
116
deficiency in vitamin D
rickets
osteomalacia
117
excess vitamin D
hypercalcaemia
118
test for vitamin D
serum
119
deficiency in vitamin E
Anaemia /neuropathy/IHD
120
test for vitamin E
serum
121
deficiency in vitamin K
clotting problems
122
test for vitamin K
PT
123
excess iron
haemochromatosis
124
deficiency in iron
hypochromoc anaemia
125
test for iron
FBC
Fe and binding studies
Ferritin
126
deficiency in iodine
hypothyroidism
goitre
127
excess iodine
Hypo/Hyperthyroid (Jod-Basedow/Wolf- Chaicoff effects)
128
tests for iodine
TFTs
129
deficiency in zinc
dermatitis
130
deficiency in copper
anaemia
131
test for copper
Cu
caeruloplasmin
132
excess in copper
Wilson's disease
133
deficiency in fluoride
dental caries
134
excess in fluoride
fluorosis
135
vitamin deficiency in Crohns
B12 deficiency
fat-soluble vitamins (ADEK)
136
vitamin deficiency in coeliac
Iron deficiency
Vitamins ADEK
thiamine
Vitamin B6
folate
137
vitamin deficiency in CLD
Vitamins ADEK
B12
Selenium
Magnesium
Zinc
folate
138
vitamin deficiency in CKD
Protein energy wasting syndrome
139
vitamin deficiency in pancreatic insufficiency
Vit ADEK
140
what is refeeding syndrome
Refeeding syndrome describes the physiological consequences of rapid reintroduction of nutrition to a chronically malnourished person. This causes fluid shifts which result in electrolyte abnormalities. Refeeding syndrome can lead to cardiac failure and is potentially fatal.
141
features of cyanide poisoning
inhalation of smoke in house fire
confusion
coughing up black sputum
bitter almond taste
tachycardia
hypertensio
first degree AV block
142
What is the most important blood test in the assessment of an unconscious patient?
blood glucose
143
what complication is most commonly associated with rapid corrections of hyponatraemia
central pontine myelinolysis
144
what are the two pathways that purine can be synthesised
de novo
salvage pathway
145
which purine synthesis pathway predominates in most tissues and is more efficient
salvage
146
What is the inheritance pattern of Gilbert’s syndrome?
autosomal recessive
147
what sort of bilirubinaemia does Gilberts cause
isolated unconjugated hyperbilirubinaemia
148
what dermatological finding is associated with insulin resistance
acanthosis nigricans
149
what can be the cause of a low anion gap
hypoalbuminaemia
150
how can you distinguish chronic and acute respiratory acidosis/alkalosis?
the degree of metabolic compensation
151
What does Cholestyramine bind to in the gut in order to cause the liver to break down more cholesterol?
bile acids
152
What do bacteria in the gut convert bilirubin into which gives stool its characteristic brown colour?
stercobilin
153
is unconjugated bilirubin water soluble
no
154
is unconjugated bilirubin lipid soluble
YES
155
is conjugated bilirubin water soluble
yes
156
how is conjugated bilirubin removed in the faeces
bacteria in the gut convert it into stercobilin via stercobilinogen
stercobilin gives stool its brown colour
157
Looser’s zones are a pathognomonic X-ray finding of which condition?
osteomalacia
pseudofractures lying perpendicular to the surface of the bone. They are seen in osteomalacia as a result of defective bone mineralisation and are often bilateral and symmetrical.
158
What kind of inheritance is shown by the Multiple Endocrine Neoplasia syndromes?
autosomal dominant
men dominant
159
how is osmolar gap calculated
osmolality (lab) - osmolarity (your calc)
160
what is normal osmolar gap
<10
161
how is osmolality calculated
2(na+k) + glucose + urea
162
what can a raised OSMOLAR gap be due to
presence of something that our tests cannot measure directly.
For instance, an unexplained metabolic acidosis (usually in the context of overdose) with a raised anion and raised osmolar gap can only be due to:
- glycol
- ethanol
- mannitol
- methanol
163
when is the Guthrie test done
6 days
164
what condition are checked for in Guthrie test
Phenylketonuria
congenital hypothyroidism
cystic fibrosis
sickle cell disease
MCAD (medium chain acylCoA dehydrogenase) deficiency
165
what causes phenylketonuria
phenylalanine hydroxylase deficiency
166
how do you screen for PKu
phenylalanine levels
167
what causes congenital hypothyroidism
dysgenesis/agenesis of the thyroid gland
screen with TSH
168
what causes cystic fibrosis
Mutation in CFTR - viscous secretions → ductal blockages
169
how do you assess for cystic fibrosis
immune reactive trypsin
if positive do a DNA mutation detection test
170
what is Medium Chain AcylCoA dehydrogenase Deficiency
Fatty acid oxidation disorder
171
how is Medium Chain AcylCoA dehydrogenase Deficiency detected
Acylcarnitine levels by tandem Mass Spectrometry
172
what does Specificity mean?
probability (in %) that someone without the disease will correctly test negative
85 people without CF in total, and 80 actually test negative. Specificity is 80/85=94% (much easier to think like this than memorise formulae!)
173
what does Sensitivity mean
the probability that someone with the disease will correctly test positive
100 people with CF in total, and 90 actually test positive. Sensitivity is 90/100=90%
174
what does positive predictive value mean?
probability that someone who tests positive actually has the disease
95 people tested positive of which 90 had the disease. PPV= 90/95 = 95%
175
what does negative predictive value mean?
probability that someone who tests negative actually doesn’t have the disease
90 people test negative, 80 didnt have the disease. NPV= 80/90= 89%
176
what is ornithine transcarbamylase deficiency
key features
urea cycle disorder
- High ammonia (>200uM) leading to encephalopathy and developmental delay
- Respiratory alkalosis
- Vomiting?diarrhoea
- Treat with low protein diet (stops urea formation)
177
what do urea cycle disorders result in
high ammonia
178
how are urea cycle disorders inherited
autosomal recessive
179
which urea cycle disorder is not autosomal recessive
ornithine decarboxylase deficiency
180
why are glutamine levels high in urea cycle disorders
The body is incapable of excreting a very high level of ammonia, so, instead, the body will attach an ammonium group to glutamate to make glutamine
This means that plasma glutamine in hyperammoniaemic conditions will be high
181
treatment of urea cycle disorders
Remove ammonia (using sodium benzoate or sodium phenylacetate or dialysis)
Reduce ammonia production (low protein diet)
182
what is the metabolic state in organic acidurias
Hyperammonaemia with Metabolic ACIDOSIS and High Anion Gap
183
what causes organic acidurias
These are caused by defects within the complex metabolism of the branched chain amino acids (leucine, isoleucine and valine)
184
key features of organic acidurias
funny smelling urine
High urea, ketones
Metabolic acidosis
185
features of a child with PKU
blue eyes and fair hair/skin Retardation
186
two examples of aminoacidopathies
PKU
Maple Syrup Urine Disease
187
characteristic feature in maple syrup urine disease
sweaty feet
188
what do Mitochondrial Fatty Acid Beta-Oxidation disorders cause
hypoketotic hypoglycaemia
If you are unable to make ketones, it suggests that you are unable to break down fatty acids
189
Mitochondrial Fatty Acid Beta-Oxidation disorde example
MCADD
190
features of MCADD
hepatomegaly
cardiomyopathy
rhabdomyolysis
191
how do you screen for MCADD
Screened with blood acylcarnitine
Test urine organic acids
Treat with regular carbohydrate
192
what is galactosaemia
disorder of breaking down carbohydrates
avoid milk
193
what is the most severe form of galactosaemia
Galactose-1-phosphate uridyl transferase (Gal-1-PUT) deficiency
also the most common
194
key presenting feature of galactosaemia
conjugated hyperbilirubinaemia
poor feeds
retinopathy
195
what is Von Gierke disease
a glycogen storage disorder
196
what happens in a glycogen storage disorder
Whenever you break down glucose, you make glucose-1-phosphate or glucose-6-phosphate and then the phosphate groups have to be removed (because they are high energy groups meaning that the molecule CANNOT get across the membrane with the phosphate attached)
Without a phosphatase, the G6P and G1P cannot be exported
This results in your muscles and your liver building up loads of glycogen which cannot be liberated and so you become hypoglycaemic
197
key finding in glycogen storage disorder like Von Gierke
hypoglycaemia
198
MELAS, Kearn’s, Sayre, POEMS are all examples of
mitochondrial disorders
199
CDG type 1a is a type of
glycosylation disorder due defect of post-translational protein glycosylation
200
how do you investigate glycosylation disorder
Measure serum transferrins
201
what is diagnostic of mitochondrial disorders
high lactate and CK
Muscle biopsy diagnostic
202
what type of disorder is Tay Sachs
Lysosomal disorders
Very slow progressing
Neuroregression, hepatosplenomegaly Cardiomyopathy
Test urine mucooligopolysaccharides and WBC enzyme levels
203
difference in pH in HHS and DKA
DKA < 7.3
HHS > 7.3
204
osmolality in HHS
> 320
205
blood glucose in HHS
> 30
206
In general, what pH imbalance is associated with hypokalaemia?
alkalosis
low potassium means, potassium leaves cells into blood in exchange for protons causing an alkalosis
207
Hyperinsulinaemic hypoglycaemia causes [3]
* Insulin overdose
* Sulfonylurea excess
* Insulinoma
208
hypoinsulinaemic hypoglycaemia causes
+ve ketones
o Alcohol binge with no food
o Pituitaryinsufficiency
o Addison’s
o Liverfailure
-ve ketones
o Non pancreatic neoplasms
o Fibrosarcomata
o Fibromata
209
main investigation finding in Conn's syndrome
raised aldosterone:renin levels
210
main investigations in phaeochromocytoma
Plasma and 24h urinary metadrenaline measurement/ catecholamines & VMA
211
main investigation for Cushings
1st line: Overnight dexamethasone suppression test or 24h urinary free cortisol. +ve suggests true Cushing’s syndrome
inferior pituitary petrosal sinus sampling
212
main investigation for Addison's
SynACTHen test
213
glucose levels in Addisons
low
214
how do you differentiate ectopic ACTH and pituitary ACTH secretion
using high dose dexamethasone
low dose dexamethasone does not suppress ectopic ACTH
215
reasons for hypernatraemia in a neonate
dehydration
overly concentrated milk formula
216
reasons for hypernatraemia in a neonate
dehydration
overly concentrated milk formula
217
reasons for hyponatraemia in a neonates
excess water intake
immature tubular function
factitious
CAH
218
normal GFR
120 ml/hr
219
age related decline in GFR rate
1ml/hr/yr
220
definition of clearance
the volume of plasma that can be completed cleared of a marker substance in a unit of time.
221
when can clearance = GFR
If marker is not bound to serum proteins, freely filtered by the glomerulus, and not secreted/reabsorbed by tubular cells
222
gold standard measure of GFR
inulin
223
which endogenous marker is used for assess renal function
creatinine
224
gold standard for assessing proteinuria
protein:creatinine ratio (PCR)
225
3 definitions of AKI
1- Rise in serum creatinine over 26 within 48h
2- A 50% or greater rise in serum creatinine known or presumed to have occurred within the past 7 days
3- A fall in urine output to less than 0.5mL/kg/hour for more than 6 hours.
226
what are the 5 indiciations for dialysis
AEIOU
a- acidosis
e- electrolyte disturbance e.g. refractory hyperkalaemia
I- intoxication e.g. lithium ,aspirin
o- overload (fluid) e.g. pulmonary
u- uraemic encephalopathy
227
how is haemodialysis delievered
tessio line or AV fistula
228
how is peritoneal dialysis delivered
via a Tenckoff catheter using the peritoneum as a dialysis membrane
done at home
229
which life long immunosuppression is used post kidney transplant
tacrolimus or ciclosporin
230
which scar shows a kidney transplant may have been done for the patient
Rutherford Morrison (hockey stick)
231
4 consequences of CKD
- homeostasis failure
- hormonal function failure
- cardiovascular disease
- uraemia and death
232
what is the defect in maple syrup urine disease
alpha ketoacid dehydrogenase
233
low sodium but high serum osmolality
glucose/mannitol infusion
234
low sodium but normal serum osmolality
pseudohyponatraemia
drip arm sample
235
what is TURP syndrome
hyponatraemia from irrigation absorbed through damaged prostate
236
Hyperaldosterone picture with raised Na, low K, HTN but raised renin
renal artery stenosis
237
Man who has been in a car accident, raised sodium and plasma osmolality, low urine osmolality
Cranial diabetes inspidus
238
what would the urinary sodium be in a hypovolaemic patient
low
attempt to retain water
exception is diuretics where sodium will be high in the urine regardless
239
diagnostic criteria for SIADH
True hyponatraemia (<135)
low plasma/serum osmolality (<270)
high urine sodium (>20)
high urine osmolality (>100)
no adrenal/thyroid/renal dysfunction
low serum high urine
240
most common cause of SIADH
small cell lung cancer
241
what does aldosterone stimulate the transcription of
ENaC channels
242
causes of hyperkalaemia
* Reduced GFR
* Reduced renin activity
o Type 4 renal tubular acidosis (diabetic nephropathy)
o NSAIDs
* ACE inhibitors
* Angiotensin receptor blockers
* Addison's disease
* Aldosterone antagonists
* Potassium release from cells
243
causes of hypokalaemia
* GI loss
* Renal loss
o Hyperaldosteronism, Cushing's syndrome
o Increased sodium delivery to the distal nephron
o Osmotic diuresis
* Redistribution into cells
o Insulin
o Beta agonists
o Alkalosis
* RARE causes:
o Renal tubular acidosis type 1 and 2
o Hypomagnesaemia
244
how you distinguish between a prolactinoma and a non-functional adenoma?
prolactin levels in prolactinoma >6000
prolactin levels in non-functional adenoma 1000-5000
245
Raised prolactin, raised TSH, raised T4
TSHoma
246
what is the preferred investigation for cushings
inferior petrosal sinus sampling
247
test for Addisons
short synacthen
248
low plasma sodium, low urine sodium
primary polydipsia
249
what is the water deprivation test finding for primary polydipsia
urine does concentrate but not to normal levels (400-600)
250
what enzyme is raised in mumps
amylase-S
251
phosphate levels in secondary hyperparathyroidism vs osteomalacia/rickets
high in secondary due to CKD making it difficult to excrete phosphate leading to this retention
low in osteomalacia due to vitamin D deficiency as low vitamin D means no phosphate absorption from the gut
252
how can glucose be given to a hypoglycaemic patient with no IV access
IM glucose
253
acute treatment options for gout
NSAIDs
colchicine
corticosteroids
254
chronic treatment options for gout
allopurinol
probenecid
255
which enzyme is elevated in cardiac failure
brain natriuretic peptide
256
A man develops signs of hyperthyroidism. Bloods show low TSH and high thyroxine. A technetium scan shows no uptake. What is the likely diagnosis?
de quervains
257
normal range for urine specific gravity
1.005 and 1.030
258
21 hydroxylase deficiency
most common
low aldosterone
high sex hormones
259
second most common cause of CAH
11 beta hydroxylase def
260
which cause of CAH leads to a salt losing crisis
21 hydroxylase
261
which enzyme deficiency allows for mineralocorticoid activity
11 beta hydroxylase activity
262
why does an insulinoma reduced FFA levels
insulin suppresses lipolysis
