Chem path Flashcards
1
Q
feature of hypercalcaemia
A
bone (fractures)
moans (depression)
groans (abdo pain)
stones (kidney stones)
2
Q
features of hypocalcaemia
A
neuromuscular excitability leading to fits
3
Q
colle’s fracture
A
posterior displacement of the wrist resulting into a fracture
4
Q
causes of a colle’s fracture
A
falling onto an extended hand
5
Q
smith’s fracture
A
anterior displacement of the wrist
6
Q
causes of a smith’s fracture
A
falling onto a flexed hand
7
Q
Pott’s fracture
A
fracture of the tibia and fibula
ANKLE FRACTURE
8
Q
best investigation for suspected renal stones
A
abdo XRAY
9
Q
first blood test to do when renal stones detected on xray
A
serum calcium
10
Q
differential diagnosis of a raised calcium
A
1) cancer
2) hyperparathyroidism
3) sarcoid
11
Q
what does a normal PTH with a high calcium mean
A
PRIMARY HYPERPARATHYROIDISM
12
Q
how do you differentiate between the three differentials for high calcium
A
differentials (cancer, primary hyperparathyroidism, sarcoid)
test: PTH
13
Q
how does PTH increase serum calcium
A
increased absorption in the SI
increased release of calcium from bones
reduced calcium excretion in urine
14
Q
where does 1 alpha hydroxylase act
A
liver
15
Q
where does 1,25 hydroxylase act
A
kidney
16
Q
which enzyme does PTH regulate
A
25 hydroxylase
17
Q
eye sign of hypercalcaemia
A
band keratopathy
18
Q
complications of hypercalcaemia
A
osteofibrosis cystica pepper pot skull polydipsia peptic ulcer disease pancreatitis
19
Q
how does hypercalcaemia cause polydipsia
A
calcium is an osmotic diuretic
20
Q
MEN1 complications
A
parathyroid hyperplasia
pituitary adenoma
pancreatic tumours
21
Q
MEN2 complications
A
parthyroid hyperplasia
pheochromocytoma
medullary thyroid carcinoma
22
Q
how to treat hypercalcaemia
A
FLUIDS FLUIDS FLUIDS
SALINE
23
Q
how to cure the hypercalcaemia due to primary hyperparathyroidism
A
parathyroidectomy
24
Q
what do you give with the IV saline in the treatment of hypercalcaemia
A
frusemide (loop diuretic)
25
which diuretic must be avoided in hypercalcaemic patients
thiazides
26
why can you normally detect intracellular enzyme in the plasma
due to increased cell turnover
27
what can cause increased plasma enzyme levels
tissue injury or cell breakdown
28
what order are cardiac enzymes released in
myoglobin (cytosolic)
CK (nucleus and mitochondria)
troponin (contractile apparatus)
29
what is special about order of troponin release
some troponin is in the cytoplasm and so there is an initial small rise. However most is in the contractile apparatus and is released later causing the sustained late rise
30
causes of raised enzyme levels
increased synthesis
| reduced clearance
31
where is ALP made
bone
liver
placenta
intestine
32
what is an isoenzyme
an enzyme that exists in a different form
33
if someone presents to GP with raised ALP and RUQ pain what else would you check in LFTS
GGT
34
how do you differentiate between liver and bone ALP
also measure GGT
electrophoretic seperation
bone specific immunoassay
35
physiological causes of raised ALP
pregnancy
| growth spurt in a child
36
pathological causes of raised ALP (>5x)
BONE: paget's, osteomalacia
LIVER: cholestasis, cirrhosis
37
pathological causes of raised ALP (<5x)
BONE: tumour, infiltration, osteomyelitis
LIVER: hepatitis, infiltrative disease
38
causes of high serum amylase
mumps, pancreatitis, salivary disorders (salivary amylase is an isoform)
39
risk factors for statin related myopathy
polypharmacy
FH
high dose
PMH with a different statin
40
causes of a raised CK
```
being afrocarribean
MI (>10x)
Duchenne muscular dystrophy (>10x)
rhabdomyelysis
severe exercise
```
41
when are enzymes used to measure therapeutic response
Measurement of thiopurine methyltransferase (TPMT) activity is encouraged prior to commencing the treatment of patients with thiopurine drugs such as azathioprine, 6-mercaptopurine and 6-thioguanine
42
when are enzymes used to measure other substances
glucose oxidase as a reagant to measure glucose
43
diagnostic criteria of an acute MI
troponin rise and fall with
a) ischemic symptoms
(b) pathologic Q waves on the ECG
(c) ECG changes indicative of ischemia
(d) coronary artery intervention
44
what is the unit of enzyme activity
U
| quantity of enzyme to catalyse 1umol of substrate per minute
45
what is the ratio of intracellular to extracellular fluid
2:1
46
which has more sodium, intracellular or extracellular fluid
extracellular
47
which has more potassium, intracellular or extracellular fluid
intracellular
48
define osmolarity
number of particles in a solution
49
units of osmolaLity when measured with an osmometer
mmol/Kg
50
units of osmolarity when it is calculated
mmol/L
51
equation for osmolarity
2(Na+K)+ urea +glucose
52
pathological determinants of osmolarity
endogenous: glucose
exogenous: mannitol and ethanol
53
normal range of osmolality
275-295mmol/kg
54
what is the difference between osmolarity and osmolality
osmolar gap
| if high- metabolic acidosis
55
what does an osmolar gap mean re metabolic acidosis
osmolaRity is lower than osmolaLity
| extra unmeasured solutes are dissolved in serum
56
how is sodium concentration maintained
actively pumped from ICF to ECF by Na/K/ATPase
57
how do you know if someone has true hyponatraemia
serum osmolarity is low and sodium is also low
58
symptoms of hyponatraemia
N&V (<136mmol)
confusion <131mmol)
seizures and non-cardiogenic pulm oedema (<125mmol)
coma(<117mmol)
59
causes of hyponatraemia with a high serum osmolarity
mannitol/ glucose infusion
60
causes of hyponatraemia with a normal serum ofmolarity
pseudohyponatraemia (paraproteinaemia or hyperlipidaemia)
61
causes of hyponatraemia with low serum osmolarity
true hyponatraemia
62
causes of hyponatraemia with hypervolaemia
THE FAILURES
heart failure, renal failure and liver failure
FLUID RESTRICT
63
causes of hyponatraemia with euvolaemia
THE ENDOCRINE CAUSES
| hypothyroidism, glucocorticoid insufficiency or SIADH
64
causes of hyponatraemia with hypovolaemia
SALT LOSS
D&V
diuretics
salt losing nephropathy
65
tests in a euvolaemic hyponatraemic patient
TFT
short synACTHen test
paired urine
serum osmolarity
66
treatment of a hypovolaemic hyponatraemic patient
restore fluid with 5% dextrose
67
what determines urine sodium output
```
RAS
aldosterone
renal function
naturitic peptides (BNP and ANP)
```
68
where is aldosterone synthesised
zona glomerulosa of the adrenal gland
69
function of aldosterone
sodium reabsorption in kidney and urinary excretion of potassium
70
how to differentiate between renal and non renal causes of hyponatraemia
urinary sodium
| 20mmol/L is always cutoff
71
what rate do you correct sodium at and why
1mmol/L/hr
| risk of central pontine myelinolysis
72
what is central pontine myelinolysis
psuedobulbar palssy, parapariesis, locked in syndrome,
73
causes of hyponatraemia after surgery
over hydration with hypotonic saline
| increase ADH release by body as a stress response to surgery
74
what type of hyponatraemia is SIADH
euvolaemic hyponatraemia
75
is the urine osmolarity high in SIADH
YES
| lots of water reabsoption
76
causes of SIADH
malignancy:SCLC, pancreas, prostate and lympohoma
chest: TB
CNS: abscess, trauma, meningoecephalitis
drugs: SSRI, carbamezapine, opioids, PPI
77
treatment of SIADH
FLUID RESTRICT
| can use tolvaptan and demeclocycline to induce DI (not on NHS)
78
define hypernatraemia
plasma sodium is greater than 148mmol/L
79
complications of rapid correction of hypernatraemia
cerebral oedema
80
causes of hypovolaemic hypernatraemia
water is lost more than sodium
D&V
burns
renal loss: loop diuretics or osmotic diuresis after initial hyponatraemia
81
causes of euvolaemic hypernatraemia
DI
skin (sweating, fever)
resp (tachypnoea)
82
symptoms of hypernatraemia
thirst, confusion, seizures, coma
83
causes of hypervolaemic hypernatraemia
```
CONNS syndrome (excess mineralocorticoids)
hypertonic saline
```
84
diabetes indipidus
HYPERNATRAEMIA (euvolaemia)
| no ADH or insensitive to ADH
85
how to diagnose DI
8 hour fluid deprivation test
| urine DOES NOT CONCENTRATE
86
how to differentiate between cranial and nephrogenic DI
cranial- urine concentrates with desmopressin administration, nephrogenic stays dilute
87
primary polydipsia
sx of DI but urine concentrates 400-600mosm/kg in fluid deprivation
88
causes of nephrogenic DI
lithium, democlocycline
inherited channelopathy
hypercalcaemia
89
what is the predominant intracellular cation
potassium
90
causes of hypokalaemia
1) GI loss
2) renal loss
3) drugs : Beta blockers, insulin causing redistribution
metabolic alkalosis causing redistribution into cells
4) renal tubular acidosis
5) hypomagnesia
91
Type 1 renal tubular acidosis
failure of hydrogen ion pumping at distal tubule
H+ is not excreted resulting in acidosis and hypokalaemia
SEVERE
92
Type 2 renal tubual acidosis
failure to reabsorb bicarbonate at the proximal tubule resulting in acidosis and hypokalaemia
mild
93
tybe 4 renal tubular acidosis
aldosterone deficiency/ resistance
| acidosis with hypERkalaemia
94
how to treat hypokalaemia
sandoK
monito
IV KCl if <3mmol/L but infusion rate of <10mmol/hr to avoid arrthmia
95
increased intake causing hyperkalaemia
fasting
parenteral
stored blood
96
transcellular movement causing hyperkalaemia
acidosis
DKA
rhabdomyelysis
97
reduced excretion causing hyperkalaemia
```
acute renal failure
potassium sparing diuretics e.g. spironalactone
ARB
ACEI
NSAIDS
```
98
treatment of hyperkalaemia
```
10%10ml calcium gluconate
100ml 20% dextrose
10 units insulin
salbutamol as an adjunct
TREAT THE CAUSE
```
99
causes of metabolic acidosis
DKA
renal tubular acidosis
intestinal fistula
100
causes of metabolic alkalosis
pyloric stenosis
hypokalaemia
ingestion of bicarbonate
101
causes of respiratory acidosis
lung injury e.g. pneumonia
COPD
decreased ventilation: morphine OD
102
causes of respiratory alkalosis
mechanical ventilation
| panic attack
103
causes of elated anion gap metabolic acidosis
Ketoacidosis
Uraemia
Lactic acidosis
Toxins (ethylene glycol, methanol, paraldehyde, salicylate)
104
anion gap calculation
(Na+K)-(cl+HCO3)
105
markers for liver function
clotting (INR)
albumin
glucose
106
markers of liver cell damage
```
ALT
AST
GGT
alk phos
bilirubin
```
107
AST:ALT ratio in alcoholic liver disease
2:!
108
AST:ALT ratio in viral liver disease
<1:1
109
when does alk phos rise
PREGNANCY
| cholestasis
110
when do you use GGT
to confirm raised liver ALP
| elevated in chronic alcohol disease, bile duct disease and metastatic disease
111
define porphyria
deficiency of enzyme in the haem synthesis pathway causing overproduction of toxic haem precursors resulting in neurovisceral attacks or cutaneous skin lesions
112
where is ALA synthase found
every cell
113
what is 5ALA also known as
delta ALA
114
what is PBG synthase also known as
ALA dehydratase
115
how is acute intermittent porphyria inherited
autosomal dominant
116
what is the defect in acute intermittent porphyria
HMB synthase deficiency
117
symptoms of acute intermitten porphyria
neurovisceral sx
| abdo pain, seizures, psych disturbances, vomiting, tachycardia, sensory loss, hypertension, weakness, constipation
118
how to diagnose acute intermittent porphyria
port wine urine
| ALA and PBG in urine
119
factors inducing AIP attack
starvation, premenstrual, stress and ALA synthase inducers e.g. barbiturates, ethanol and steroids
120
how to treat AIP
IV haem arginate
IV carbohydrate
analgesia
avoid precipitants
121
ALA synthase deficiency
NOT A PORPHYRIA
| linked with x-linked sideroblastic anaemia
122
ALA dehydratase deficiency (plumboporphyria)
acute neurovisceral
coma, bulbar palsy, abdo pain
build up of ALA
123
another name for ALAdehydratase
PBG synthase
124
congenital erythropoeitc porphyria enzyme
deficiency in uroporphyrinogen III synthase
125
CEP substance buildup
ALA PBG and HMB
126
CEP symptoms
non acute cutaneous lesions
| skin blistering and fragility
127
Porphyria cutanea Tarda (PCT)
non acute skin lesions
128
PCT symptoms
vesicles on sun exposed areas with blistering and scarring
| raised uroporphyrinogen and ferritin
129
HCP
acute skin
use stool sample
skin blistering in sun exposed areas
130
Variegate porphyria (VP)
protoporphyrinogen deficiency
131
variegate porphyria pathology
build up in protopophyrinogen IX
| found in stool
132
EPP
defiency in ferrochelatase
paediatric
non blistering redness minutes after sun exposure
133
hormones of the anterior pituitary
```
Prolactin
TSH
GH
LH
FSH
ACTH
```
134
symptoms of anterior pituitary failure
galactorrea
| amenhorrea
135
what complication is caused by a pituitary macroadenoma and how is it tested
bitemporal hemianopia
| Humphrey's 30-2 test
136
what level of prolactin makes you "almost" certain its a prolactinoma
6000
137
how to investigate a suspected prolactinoma
Visual fields
Pituitary function test (stress test)
MRI
138
What is a pituitary function test
induce stress by fasting (hypoglycaemia)
LH
TRH
this should induce ACTH and GH release
139
in a functioning pituitary what hormones are produced ina pituitary stress test
ACTH via CRH
| GH via GHRH
140
what needs to be checked before a pituitary stress test
no epilepsy
| no cardiac risk factors
141
how to rescue a hypoglycaemic patient in a pituitary stress test
get good IV access
| 50ml 20% dextrose
142
what quantities of hormone are given in pituitaty function test (CPFT)
200mcg TRH
100mcg LHRH
0.15 units insulin/kg
143
what needs to be replaced in anterior pituitary failure
HYDROCORTISONE
thyroxine
oestrogen
GH
144
how to treat prolactinoma
cabergoline
| bromocriptine
145
how does a nonfuncitoning adenoma cause hyperprolactinaemia
it presses on the stalk so dopaminecan't reach the pituitary
146
adaquate cortisol response in CPFT
Adequate cortisol response = ↑ greater than 170 nmol/l to above 500nmol/l.
147
adaquate GH response in CPFT
Adequate GH response = ↑ greater than 6mcg/L
148
adequate TSH response in CPFT
>5mU/L
| 30 minute response greater than 60 minute
149
normal LH response in CPFT
>10U/L
150
normal FSH response in CPFT
>2U/L
151
reduced TSH
| reduced T4
central hypothyroidism
| hypothalamic/ pituitary failure
152
high TSH
| low T4
hypothyroidism
153
high TSH
| normal T4
treated hypothyroidism
| subclinical hypothyroidism
154
high TSH
TSH secreting tumour
| TSH resistance
155
low TSH
| high T3, T4
hyperthyroidism
156
causes of high uptake hyperthryrodism
Graves disease
toxic multinodular goitre
single thyroid adenoma
157
causes of low uptake thyroiditis (hyperthyroidism)
De Quervain's thyroiditis
| post partum thyroiditis
158
what is de quervains thyroiditis
post viral painful nodule causing hyperthyroidism
159
causes of autoimmune hypothyroidism
Hashimoto's thyroiditis
| primary autoimmune hypothyroidism
160
what is hashimoto's thyroiditis
autoimmune disorder post viral antibodies cause initial hyperthyroidism then hypothyroidism.
161
non-autoimmune causes of hypothyroidism
iodine deficiency
drug induced- lithium, amiodarone
post RT/ thyroidiectomy
162
treatment of high uptake hyperthyroidism
beta blockers
| carbimazole
163
treatment of de quervains hyperthroidism
NSAIDS
| beta blockers
164
types of thyroid cancer
```
medullary
papilliary
follicular
anaplastic
lymphoma
```
165
medullary thyroid cancer
MEN2a
| produces calcitonin
166
how to differentiate pituitary cushings from non-pituitary
dexamethasone suppresion test
| low dose will fail to suppress pituitary cushings but high dose will
167
how to test for addisons disease
synACTHen test
| give hydrocortisone unless adrenal lesion when fludrocortisone needs to be given first
168
investigation in conn's syndrome
aldosterone: renin ration
| aldosterone is high but renin is low
169
pathology of conn's syndrome
```
HYPERALDOSTERONISM
very high BP
resistant to tx
high sodium
low potassium
```
170
treatment of conn's syndrome
aldosterone antagonists
| potassium sparing diuretcis e.g. spironalactone, amiloride
171
how to diagnose a phaeochromocytoma
24 hour urinary and plama metadremaline/ catecholamine measurement
172
how to treat a phaeochromocytoma
alpha blockade then beta blockade
| resect tumour once bp is well controlled
173
phenytoin toxicity
ataxia
| nystagmus
174
phenytoin under-treatment
seizures
175
phenytoin cautions and treatment
at high levels liver becomes saturated and so blood levels surge: reduce/ omit doses
176
digoxin toxicity
arrythmias
xanthopsia- seeing yellow
confusion
heart block
177
digoxin under-treatment
arrythmias
178
cautions with digoxin
levels increase if hypokalaemia
| caution with renal impairment patients
179
treatment of digoxin toxicity
digibind
180
signs of lithium toxicity
```
lethargy
tremor
fits
arrythmia
renal failure
```
181
signs of lithium undertreatment
mania
182
cautions with lithium treatment
hyponatraemia or decreased renal function/ diuretics cause impaired excretion and levels rise
183
gentacmycin toxicity
tinitus
deafness
nystagmus
renal failure
184
theophyline
COPD treatment
185
theophyline toxicity
arrthmia
tremor
anxiety
convulsions
186
theophyline under-treatment
no effect on bronchial smooth muscle
187
cautions in theophyline therapy
if erythromycin or phenytoin use levels rise
takes longer for non-smokers liver to clear
if liver failure difficulty clearing
188
causes of primary hypercholestrolaemia
type 2 familial hypercholesterolaemia
polygenic hypercholesterolaemia
familial hyperalpha-lipoproteinaemia
phyosterolaemia
189
causes of primary hypertriglyceridaemia
type I, V, VI
190
primary mixed hyperlipidaemia
familial combined hyperlipidaemia
familial hepatic lipase deficiency
familial dysbetalipoproteinaemia
191
causes of hypolipidaemia
AB lipoproteinaemia
hypo alpha lipoproteinaemia
hypobeta lipoproteinaemia
Tangier disease
192
what does PCSK9 do
binds LDLR and forces its degradation
193
what happens if PCSK9 is low
low LDL levels
194
autosomal dominant mutation in familial hypercholesterolaemia (type 2)
PCSK9. apoB, LDLR
195
autosomal recessive causes of type 2 familial hypercholesterolaemia
LDLRAP1
196
cause of familial hyperalphalipoproteinaemia
CETP deficiency
197
cause of phytosterolaemia
ABC G5 and G8
198
cause of type 1 primary hypertriglyceridaemia
lipoprotein lipase or apoC II
199
cuase of type 5 primary hypertriglyceridaemia
apoA V deficiency
200
cause of type 6 hypertriglyceridaemia
increased triglyceride synthesis
201
cause of alphabetalipoproteinaemia
MTP deficiency
202
hypoA- lipoproteinaemia
apoA-I mutation
203
hypoB lipoproteinaemia
apo~B protein is truncated
204
tangier deficiency
HDL deficiency
205
lipoprotein order of desity
```
chylomicron
FFA
VLDL
IDL
LDL
HDL
```
206
vitamin A excess
exfoliative dermatitis
207
vitamin A deficiency
colour blindness
208
vitamin A testing
in serum
209
vitamin D deficiency
osteomalacia/ rickets
210
vitamin D excess
hypercalcaemia
211
vitamin D testing serum
serum
212
vitamin E name and where found
tocopherol and in serum
213
vitamin E deficiency
anaemia
| neuropathy
214
vitamin K
defective clotting
215
vitamin K testing
PTT
216
vitamin K name
phytomenadione
217
how to test vit B1
RBC transketolase
218
vitamin B1
Beri Beri
wernicke's
neuropathy
219
vitamin B2 deficiency
glossitis
220
vitamin B2 test
RBC glutathione reductase
221
vitamin B6 name
pyridoxine
222
vitamin B6 deficiency
anaemia
| dermatitis
223
vitamin B6 testing
RBC AST activation
224
vitamin B6 excess
neuropathy
225
vitamin B12 name
cobalamine
226
vitamin B12 deficiency
`pernicious anaemia
227
how to test vitamin B12
serum B12
228
vitamin C name
abscorbate
229
vitamin C deficiency
scurvy
230
vitamin C excess
renal stones
231
vitamin C testing
plasma
232
folate deficiency
neural tube defects
| megaloblastic anaemia
233
how to test folate levels
RBC folate
234
vitamin B3 name
niacin
235
vitamin B3 deficiency
pellagra (dementia, diarrhoea, dermatitis)
236
iron deficiency
hypochromic anaemia
237
how to test iron levels
ferratin
FBC
Fe
238
iodine deficiency
goitre
| hypothyroidism
239
zinc deficiency
dermatitis
240
copper deficiency
anaemia
241
copper excess
wilsons
242
copper levels testing
cu caeoplasmin
243
flouride deficiency
dental caries
244
flouride excess
flourosis
245
what is screened for in the gunthrie test
```
phenylketonuria
medium chain acylcoA dehydrogenase deficiency
congenital hypothyroidism
CF
sickle cell disease
```
246
what is phenylketonuria
phenylanine hydroxylase deficiency
247
how to you screen for phenylketonuria
phenylanine levels in blood
248
congenital hypothyroidism pathology
dys/agenesis of the thyroid gland
249
Cystic fibrosis pathology
CFTR gene mutation
250
screening for congenital hypothyroidism
TSH levels
251
how to test for cystic fibrosis
immune reactive trypsin is positive
252
how to detect medium chain acyCoA dehydrogenase deficiency
acylcarnatine levels by tandem mass spectroscopy
253
specificity
those who test negative correctly
| Total negative/(false postive +true negative)
254
sensitivity
correctly test positive
| Total positive/ (false negative + true positive)
255
Positive predictive value
the probablitiy test will correctly identify someone with the disease
TP/ (TP+FP)
256
negative predictive value
the probability that somebody without the disease tests negative
TN/ (TN+FN)
257
fasting glucose levels to diagnose diabetes
>7
258
random glucose levels to diagnose diabetes
>11.1
259
OGTT levels to diagnose diabetes
>11.1
260
HBA1c levels to diagnose diabetes
>48
261
cause of hyperinsulinaemic hypoglycaemia
iatrogenic insulin
sulfonylurea excess
insulinoma
262
cause of hypoinsulinaemic hypoglycaemia with ketones
```
alcohol binge
no food
liver failure
pituitary insufficiency
addison's
```
263
cause of hypoinsulinaemic hypoglycaemia with no ketones
non pancreatic neoplasms e.g. fibromata or fibrosarcomata
264
non-islet tumour hypoglycaemia
low glucose, low insulin, low c eptite, low FFA and low ketones
265
mmeachanism of non-islet cell tumour hypoglycaemia
paraneoplastic syndrome
| tumouyr secretes big IGF2 which binds to IGF1 and insulin receptors
266
normal GFR
120 ml/minute
267
age related GFR decline
1ml/hr/yr
268
clearance definition
volume of plasma that can be cleared of a marker per unit time
269
conditions for a marker to measure clearance
marker cannot bind to serum protein
marker must be freely filtered by glomerulus
marker cannot be secreted/ reabsorped by glomerular cells
270
gold standard measure of GFR
inulin
271
endogenous marker of GFR
creatinine
272
what to measure in a single sample of urine
dipstick
microscopy
protein: creatinine ratio
273
what to measure in 24 hour urine collection
stone forming elements
proteinuria quantification
creatinine clearance
electrolytes
274
urine microscopy
```
test crystal
rbc
wbc
casts
bacteria
```
275
AKI definition
creatinine clearance rising 1.5x baseline in 48 hours or rising over26.5 in 48 hours
276
severe AKI creatinine change
3x rise in creatinine clearance
277
pre-renal cause of AKI
reduced renal perfusion
| hypovolaemia
278
renal cause of AKI
vascular, tubal, interstitial or glomerular
279
post renal causes of AKI
outflow obstruction
280
indications for emergency dialysis
```
pulmonary oedema
refractory hyperkalaemia
,metabolic acidosis
uraemic encephalopathy
lithium toxicity
```
281
common causes of CKD
```
diabetes
arethosclerotic diseae
hypertensionchronic glomerulonephritis
infective or obstructive uropathy
polycystic kidney disease
```
282
```
consequences of CKD
metabolic
hormonal
CVS
urea
```
metabolic: hyperkalaemia, acidosis
hormonal: reduced epo and anaemia and hyperparathyroidism secondary to low vit D
CVS: vascular calcification and atherosclerosis, uraemic cardiomyopathy
uraemia
283
CKD staging
1: GFR>90
2. mild GFR 60-89
3 moderate GFR 30-59
4 severe GFR 15-29
5. ESRF <15 GFR or on dialysis
284
two actions of purines
secondary messengers for hormones e.g. cAMP
| energy transfer e.g. ATP
285
enzyme that catalyses xanthine to urate
xanthine oxidase
286
enzyme that catalyses hypo-xanthine to xanthine
xanthine oxidase
287
enzyme that catalyses urate to allantoin
uricase
288
does solubility of monosodium urate increase or decrease with temperature
decrease
289
what happens to urate in the proximal convoluted tubule
reabsorbed then secreted
290
what is Lesch-Nyhan syndrome
complete HGPRT deficiency
291
symptoms of lesch-nyhan syndrome
```
retardation
choreiform movements
self mutilation
spasticity
hyperuricaemia
developmental delay
```
292
when do lesch-hyhan symptoms appear
developmental delay at six months
self mutilation at 1-16
choreiform movements at 1 yr
293
causes of hyperuricaemia
| primary causes of increased urate production
```
Lesch nyhan syndrome
fructose intolerance
PRPP synthetase overactivity
partial HRPT deficiency
glycogen storage disorder
```
294
causes of hyperuricaemia
| secondary increased urate production
```
myeloproliferative disorders
lymphoproliferative disorders
carcinomatosis
chronic haemolytic anaemia
Gaucher's disease
```
295
causes of hyperuricaemia
| primary causes of reduced urate excretion
FJHN
296
causes of hyperuricaemia
| secondary causes of reduced urate excretion
```
Bartter syndrome
chronic renal failure
aspirin
diuretics
Downs
Saturine gout
```
297
causes of hypouricaemia
| decreased urate production
xanthine oxidase defiicency
allopurinol
liver failure
298
causes of hypouricaeia
| increased urate excretion
fanconi syndrome
idiopathic hypouricaemia
URAT1 inactivation
drugs
299
joint most commonly affected in gout
1st MTP
300
how to manage acute gout
NSAIDS
colchacine
glucocorticoids
301
how to chronically mange gout
allopurinol
diet modification
drink lots of water
probenecid
302
how to increase renal excretion of uric acid in chronic gout patients
probenecid
303
what does allopurinal interact with
azothiprine
| makes its intermediay 6-mercaptopurine last longer
304
how to diagnose gout
Tap effusion
view under red polarised light
negatively bifringent crystals
305
what is pseudogout
calcium pyrophosphate
306
how to diagnose psuedogout
positively brifringent crystals under blue polarised light
307
PCSK9 gain of function mutation inheritance
autosomal dominant
| more LDL receptor degradation resulting in familial hypercholesterolaemia
308
how to treat obesity
hypocaloric diet and exercise
orlistat
bariatric surgery
309
metabolic acidosis abnormalities
low PH
high bicarbonate
low co2 if compensated
310
causes of metabolic acidosis
increased H+ with reduced bicarbonate
increase H+ production: DKA
reduced H+ excretion: renal tubular acidosis
bicarbonate loss: intestinal fistula
311
respiratory acidosis findings on ABG
raised CO2
raised H+
raised HCO3-
312
causes of respiratory acidosis
poor ventilation
poor lung perfusion
impaired gas exchange
313
metabolic alkalosis findings on ABG
reduced H+
increased bicarbonate
if compensted high pCO2
314
causes of metabolic alkalosis
H+ loss: pyloric stenosis
hypokalaemia
bicarbonate ingestion
315
findings on ABG for respiratory alkalosis
low H+
low CO2
low HCO3
316
causes of respiratory alkalosis
artificial ventilation
voluntary
stimulation of respiratory centre
317
what acidosis/ alkalosis does aspirin overdose cause
resp alkalosis
318
criteria of a screening test
```
Important health problem
Accepted treatment
Facilities for diagnosis and treatment
Latent or early symptomatic stage
Suitable test or examination
Test should be acceptable to the population
Natural history understood
Agreed policy on whom to treat as patients
Economically balanced
Continuing process
```
319
in phenylketonuria where are abnormal metabolites found and what are they
phenylalanine in blood
| phenylacetic acid in urine
320
when is gunthrie test performed
day 5-8 of life
321
urea cycle defects
HHH
| Type 2 citrullinaemia
322
what are urea cycle defects associated with
encephalopathy
respiratory alkalosis
irreversible neurological damage
323
neonatal complications (common)
```
retinopathy of prematureity
respiratory distress syndrome
PDA
Intraventricular haemmorhage
necrotising enterocolitis
```
324
what is the pathology of necrotising enterocolitis
inflammation of the bowel wall leading to necrosis and perforation
325
symptoms of necrotising enterocolitis
abdo distension
| bloody stool
326
signs of necrotising enterocolitis on AXR
intramural air
327
when is full GFR reached
age 2
328
what are the consequences of neonates not having complete GFR
limited ability to exchange Na+ for H+
| slow excretion of solute load
329
what is the difference in the proximal tubule between children and adults
shorter in children
330
what is the significance of a shorter proximal tubule in children
LOWER RESORPTIVE CAPACITY but usually sufficient for small solute load
331
what is the difference in the loop of henle and DCT between adults and children
shorter in children
332
what is the difference in the loop of henle and DCT between adults and children
lower concentrating ability
333
what is the maximum urine osmolarity in a child
700mmol/kg
334
what is the difference in DCT between adults and children
DCT is comparitively unresponsive to aldosterone
335
what changes occur in the volume of ECF in the first weeks of life
it falls by 40%
336
cause of hypernatraemia in neonates
dehydration
| salt poisoning
337
how to differentiation causes of hypernatraemia in a neonate
paired urine/ blood creatine, urea and electrolytes
338
what is the defect in congenital adrenal hyperplasia
21 hydroxylase deficiency
339
what are symptoms of congenital adrenal hyperplasia
hyponatraemia
hyperkalaemia with volume depletion
hypoglycaemia
ambiguous genitalia in females
growth acceleration in children
340
what hormones are lacking in congenital adrenal hyperplasia
aldosterone
| cortisol
341
causes of hyperbilirubinaemia (unconjugated bilirubine)
```
increased synthesis (RBC breakdown)
increased enterohepatic circulation
low rate of transport into the liver
```
342
what is the complication of hyperbilirubinaemia
bilirubin crosses BBB and causes kernicterus
343
conditions causing hyperbilirubinaemia
crigler-najar syndrome
G6PD deficiency
haemolytic disease e.g rhesus/ abo incompatibility
344
what is the definition of prolonged jaundice
14 days in term babies and 21 days in preterm babies
345
causes of prolonged jaundice
breast milk jaundice
congenital hypothyroidism
neonatal infection/ sepsis
346
what level of conjugated bilirubin is always pathological
>20umol/L
347
causes of conjugated hyperbilirubinaemia
biliary atresia
choledocal cyst
ascending cholangitis if TPN
galactosaemia (inherited metabolic disorders)
348
what is conjugated hyperbilirubinaemia often associated with
cardiac abnormalities- situs inversus, polysplenia
349
hypocalcaemia in a newborn can lead to
osteopenia of premaurity
| fraying, splaying and cupping of long bones
350
biochemistry of osteopenia
calcium is normal
phosphate is <1umol/L
alk phos> 1200U/L (10x adult ULN)
351
how do you treat neonatal osteopenia
calcium and phosphate supplements
352
presentation of rickets
bowing of legs, muscle hypotonia frontal bossing
353
genetic causes of rickets
pseudovitamin D deficiency 1- defective receptors
pseudovitamin D deficiency 1- defective renal hydroxylation
familial hypophosphataemia
354
familial phosphataemia
high urine phosphoethanolamine
| low tubular maximal reabsorption of phosphate
355
hyponatraemia after prostate surgery
TURP syndrome
