Chem Path hard to recall Flashcards
What liver enzyme is raised after MI?
AST
Which enzyme is markedly raised in obstructive jaundice along with direct bilirubin?
ALP
Which liver enzyme is most raised in alcohol abuse?
GGT
What test is used for Paroxysmal nocturnal haemoglobinuria (PNH)?
Ham’s test
What Ab can be looked for in T1DM?
Anti-GAD
Define impaired glucose tolerance
Fasting: <7mmol/L
2hr: 7.8 - 11.1mmol/L
Which liver enzyme increases in pregnancy?
ALP
Lipid soluble drugs require metabolism by the liver in two phases. What is Phase I?
Oxidation by cytochrome P450
Features of digoxin toxicity?
Arrhythmia
Anorexia, nausea and vomiting and occasionally, diarrhoea
Confusion especially in the elderly
Yellow vision (xanthopsia), blurred vision and photophobia
Name a drug which decreased excretion, increased plasma concentration and increased risk of toxicity may occur when this taken in conjunction with thiazide diuretics
Lithium
What are 2 breakdown products of cocaine?
EME = ecgonine methyl ester BE = benzoylecgonine
Symptoms of ecstasy OD?
Hyperthermia Dilated pupils Agitation Confusion Raised urea and creatinine Raised myoglobin Hyponatraemia
What can be tested in urine for heroin/opioid detection?
6-MAM
What Tx can be used for beta blocker OD?
IV atropine
Glucagon
Symptoms of TCA OD?
Drowsy Tachycardia Wide QRS Dilated pupils Hyperreflexia
Symptoms of salicyclate OD?
Hyperventilation Nausea Sweating Ringing in the ears Metabolic acidosis
What sample is required for use with gas chromatography mass spectroscopy?
Blood sample
Which technique can be used to test for benzodiazepines and various antipsychotic drugs?
Liquid chromotography
Which technique can be used to analyse samples of stool, liver and also urine?
Thin layer chromotography
Which drug is not excreted into saliva?
THC
What is Nelson’s syndrome?
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
Levels of which steroid are raised in the serum of CAH patients?
17-Hydroxyprogesterone
Increased levels of what hormone are seen in the urine of CAH patients?
Pregnanetriol
The sodium and potassium pattern seen in CYP21 deficiency?
Hyponatreamia with Hyperkalaemia
How do you calculate creatinine clearance?
Creatine clearance = (creatinine’s urine concentration)* (Vol) / (plasma creatinine concentration)
What is the gold standard for measuring glomerular filtration rate (GFR)
Inulin
What is A good indicator of renal function?
Serial creatinine readings
What enzyme is Useful in staging and monitoring treatment of extracapsular spread of prostatic carcinoma?
Acid phosphatase
Which enzyme rapidly rises post myocardial infarction but then rapidly declines and is a useful marker of reinfarction?
Creatine Kinase (MB)
A 3 year old unimmunised boy presents with Mumps. Which enzyme is likely to be raised?
Amylase
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
Organophosphonate poisoning symptoms? (SLUDGE)
Salivation Lacrimation Urination Defecation GI upset Emesis
Antibodies associated with autoimmune hepatitis?
ASMA
ANA
Which enzyme is most likely to be raised in autoimmune hepatitis?
AST
Which enzyme is most likely to be raised in PBC?
ALP
SCID is frequently caused by a deficiency in which enzyme?
Adenosine deaminase
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
Fabry’s disease occurs due to an X-linked disorder of glycolipid metabolism due to deficiency of which enzyme?
Galctosidase A
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
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
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
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
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
What is the recommended therapy used in an attack of acute intermittent porphyria?
Haem arginate
Anti-inflammatory drug that is contraindicated in patients with porphyria?
Diclofenac
Drug that can result in chronic porphyria?
Alcohol?
Drug recommended for management in acute attacks of anxiety.
Diazepam
A second drug that is contraindicated in patients with porphyria that is not an NSAID
Co-trimoxazole
Autosomal dominantly inherited porphyria with neurovisceral manifestations only, resulting from porphobilinogen (PBG) deaminase deficiency.
Acute intermittent porphyria
Neurotoxic product(s) of heme breakdown producing neurovisceral damage in certain porphyrias
5-aminolevulinic acid
Autosomal dominantly inherited (or spontaneous mutation) porphyria with cutaneous manifestations only, resulting from uroporphyrinogen decarboxylase deficiency
Porphyria cutanea tarda
Enzyme that catalyses the rate-limiting step of heme breakdown
ALA synthase
Product(s) of heme breakdown resulting in photosensitivity (i.e. cutaneous) damage in certain porphyrias
Activated porphyrins and oxygen free radicals
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
2 examples of localised amyloidosis?
Alzheimer’s
T2DM
What 3 hormones are given in combined pituitary function test?
GnRH
TRH
Insulin
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
Lipid profile in alcohol abuse and why?
Decreases fatty acid oxidation
High HDL
High VLDL
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
Lipid profile in diabetes and renal failure and why?
Not enough active lipoprotein lipase to chop off triglyceride
High VLDL
Low HDL
Lipid profile in hypothyroidism and why?
Apo receptor on liver doesn’t function properly
High VLDL
High LDL
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
Function of cholesterol ester transferase?
transfer cholesterol esters from HDL to IDL or LDL
Lipid profile in biliary obstruction?
high VLDL, LDL and HDL
Which molecule is formed by the gut after a meal and is the main carrier of dietary triglycerides?
Chylomicron
What is the smallest lipoprotein which carries cholesterol from extra-hepatic tissues to the liver for excretion?
HDL
Which molecule is present in the fasting state in cases of lipoprotein lipase deficiency?
Chylomicron
The first intermediate formed after VLDL particles synthesised by the liver are degraded?
Intermediate density lipoprotein
How do daily requirements of water for neonates compare with those of adults?
> 6 times adult requirements
High fluid intake in neonates during the first week of life is associated with increasing frequency of which condition.
Necrotising enterocolitis
Pseudo vitamin D deficiency 1 is associated with which defect.
Defect in renal hydroxylation
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
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
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
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
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
What 2 things does the Guthrie test check for?
PKU
Hypothyroidism
First line screen for inherited metabolic disorders?
Plasma and urine amino acids
A 2-month Canadian neonate presents with failure to thrive, jaundice and sepsis. Which inherited metabolic disorder might he have?
Type 1 tyrosinaemia
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
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
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
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
Chronic renal failure is one of the commonest causes of hypercalcaemia. What is the commonest cause of end stage renal failure in Europe?
DM
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
What type of hyperparathyroidism does Albright’s hereditary osteodystrophy cause and why?
pseudohyperparathyroidism - receptor insensitivity to PTH i.e. end organ resistance to PTH
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
What is the major antagonist of serine proteases at a site of injury?
Alpha-1-antitrypsin
Which is associated with type 1 hypersensitivity?
IgE
Increases of what is a cardiovascular risk factor?
CRP
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
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
What mutation is involved in tangier disease?
ABCA1 gene
Presentation of tangier disease and blood results?
Hepatomegaly, splenomegaly, or classically as enlarged orange tonsils in children
Low blood HDL levels
What score, derived from a DEXA scan, describes how a patient’s bone mass varies compared to an age matched control?
Z score
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
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
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
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
What does Albright hereditary osteodystrophy cause?
Pseudohypoparathyroidism
In de novo purine synthesis, what kind of feedback do guanylic acid (GMP) and adenylic acid (AMP) have on the enzyme PAT?
Negative
Which enzyme forms the rate limiting step in de novo purine synthesis?
PAT
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
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
Where in the gut are bile acids reabsorbed?
Terminal ileum
What enzyme does Allopurinol inhibit to reduce urate synthesis?
Xanthine oxidase
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
In familial hypocalciuric hypercalcaemia (FHH), which receptor has suffered a mutation?
Calcium Sensing Receptor
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
In bile acid synthesis Acyl-CoA cholesterol acyltransferase (ACAT) is the enzyme that converts cholesterol into what?
Cholesterol ester
What enzyme would you classically expect to be raised in Paget’s disease of bone?
Alkaline Phosphatase
The van den Bergh reaction is used to measure serum bilirubin via fractionation. What kind of bilirubin is measured with the direct reaction?
Conjugated
What is the gold standard investigation for quantification of urinary protein loss, not typically performed in clinical practice?
24 Hour Urine Collection
In sarcoidosis, production of which enzyme by granulomatous tissue can lead to hypercalcaemia?
1 alpha hydroxylase
PTHrP is another mechanism
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
Lomitapide is a low density lipoprotein lowering drug.
What protein does Lomitapide inhibit?
Microsomal triglyceride transfer protein
Which protein, found in blood plasma, exchanges triglycerides and cholesterol esters between lipoproteins?
Cholesteryl ester transfer protein (CETP)
Name a drug used in the treatment of non-acute gout to reduce urate levels by increasing the fractional excretion of uric acid?
Probenecid
In a patient with pseudopseudohypoparathyroidism, what would you expect the serum calcium level to be?
Normal
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
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
ecg signs of hyperkalaemia?
Bradycardia Loss of p waves Prolonged pr interval Broad QRS Tented T waves Junctional or escape rhythms
What is defined as a severe hypocalcaemia and what would you treat it with?
Corrected calcium <1.9
IV calcium gluconate
Definition of DKA?
Ketones >3
pH <7.3
BM >15
What glucose level is needed for HHS?
BM >30
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
Equation for anion gap and normal value?
Anion gap = Na + K - Cl - Bicarb
Normal = 14-18mM
Causes of raised anion gap?
Ketoacidosis - DKA, alcoholic, starvation
Uraemia - renal failure
Lactic acidosis
Toxins - Ethylene glycol, methanol, paraldehyde, salicyclate
Types of hyponatraemia?
Hypovolaemic
Euvolaemic
Hypervolaemic
Causes of hypovolaemic hyponatraemia?
D&V
Diuretics
Salt losing nephropathy
Causes of euvolaemic hyponatraemia?
Hypothyroidism
Addison’s
SIADH
Causes of hypervolaemic hyponatraemia?
CCF
Liver failure
Renal failure
Causes of hypernatraemia?
D&V Uncompensated losses - dementia, fasting for surgery Diabetes insipidus Conn's Iatrogenic
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
Causes of hyperkalaemia?
Extracellular shift
- Acidosis
- Rhabdomyolysis
Decreased excretion
- Renal: AKI, CKD
- Drugs: spironolactone, ACE inhibitors
- Addison’s
Indications for dialysis?
Acidosis (metabolic) Electrolytes (refractory hyperkalaemia) Ingested toxins Overload (pulmonary oedema) Uraemia (symptomatic)
Criteria for HHS?
pH >7.3
Osmolarity >320mOsm
BM >30mM
Causes of pseudohyponatraemia?
Hyperlipidaemia
Hyperproteinaemia
Criteria fro diagnosing SIADH?
Hyponatraemia <135 Plasma osmolality <270 Urine osmolality >100 Urine sodium >20 Euvolaemia No evidence of adrenal, renal or thyroid dysfunction
Causes of redistributive hypokalaemia?
Insulin Metabolic alkalosis Adrenaline Salbutamol Re-feeding syndrome
Characteristics of Bartter syndrome?
Hypokalaemia
Alkalosis
Hypotenision
Hypercalcuria
Mutations in bartter syndrome?
NKCC2
ROMK
Characteristics of renal tubular acidosis?
Acidosis
Hypokalaemia
Which drugs might cause an isolated rise in GGT?
Carbamazepine
Phenytoin
Phenobarbitone
Which syndrome causes an unconjugated bilirubinaemia?
Gilbert’s
Crigler najjar
Which syndrome causes a conjugated bilirubinaemia?
Dublin Johnson
Features of Schmidt’s syndrome? (Polyendocrine syndrome type 2)
Addison’s
T1DM
hypothyroidism
What enzyme to measure in someone with acute parotitis?
Amylase
Long-term complication of b12 deficiency?
Subacute combined degenration of cord - ataxia and progressive weakness in limbs and trunk, positive babinski
Features of Vit C deficiency?
Bleeding gums, skin and joints
Bone brittleness
Features of Vit E deficiency?
Haemolytic anaemia
Spino-cerebellar neuropathy - ataxia and arreflexia
Features of Vit B6 deficiency?
Sideroblastic anaemia
Seborrhoeic dermatitis
Cause of B6 deficiency?
Isoniazid tx
Dx of B6 deficiency?
RBC aspartate aminotransferase levels
Features of homocystinuria?
Fair skin
Brittle hair
Developmental delay
Features of PKU?
Fair skin
Developmental delay
Low IQ
Features of Von Gierke’s disease
Hypoglycaemia
Hepatomegaly
Kidney enlargement
Features of maple syrup urine disease?
Lethargy Poor feeding Hypotonia Sweet odour Sweaty feet
Pathognomonic feature of lyosomal storage disorders and give an example of one?
Cherry red spot
Fabry’s disease
Features of Fabry’s disease?
Developmental disease + dysmorphia
May be organomegaly
When do features arise in galactosaemia?
After milk ingestion
Features of phenytoin toxicity?
Hypotension
Heart block
Ventricular arrhythmias
Ataxia
Features of lithium toxicity?
D&V
Dysarthria
Coarse tremor
Features of gentamicin toxicity?
Ototoxic
NEphrotoxic
Features of digoxin toxicity?
Tiredness Blurred vision Nausea and abdo pain Renal failure Prolonged PR interval Bradycardia
Features of theophylline toxicity?
nausea diarrhoea tachycardia and arrhythmia headaches seizures
Which drugs potentiate theophylline toxicity?
Erythromycin
Ciprofloxacin
Features of procainamide toxicity?
Drug induced lupus
rash
fever
agranulocytosis
Features of carbamazepine toxicity?
headache ataxia abdo pain SIADH aplastic anaemia
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
Terrible 3 C’s which cause aplastic anaemia?
Carbamazepine
Chloramphenicol
Carbimazole
How can SIADH be remembered?
2 low in blood
2 high in urine
3 exclusions everywhere else
- 2 low in blood - hyponatraemia + hypoosmolar
- 2 high in urine - hypernatraemia >20 + high osmolality
- No renal/adrenal/thyroid disease + No hypovolaemia + no drugs contributing
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)
Features of Albright’s hereditary osteodystrophy?
Short height Short 4th and 5th metacarpals Low intelligence Basal ganglia calcification DM obesity Hypogonadism Hypothyroidism
Blood results of pseudohypoparathyroidism? Why does it occur?
High PTH
Low Calcium
High Phosphate
PTH receptor insensitivity in PCT
What is pseudopseudohypoparathyroidism?
Blood results?
Normal biochemistry
Similar features to pseudohypoparathyroidism due to genetic imprinting
How to test for thiamine deficiency?
RBC transketolase activity
How to test for riboflavin deficiency?
RBC glutathione reductase assay
Effect of ischaemia on potassium?
Raises potassium
Effect of Addison’s on calcium?
Hypercalcaemia
2 drugs classically associated with nephrogenic diabetes insipidus?
Lithium
Demeclocycline
Causes of Conn’s syndrome?ABCD
Adrenal adenoma
Bilateral nodular hyperplasia
Carcinoma of adrenals
Defective gene (GRA)
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
What does metabolic acidosis with a normal anion gap imply?
Loss of bicarb
Ingestion of hydrogen
What does a raised osmolar gap suggest?
Ethanol Methanol Ethylene glycol Acetone Lactic acidosis DKA Chronic renal failure
Why does myeloma not cause a raised ALP?
Directly stimulates osteoclasts - no effect on osteoblasts
RFs for osteoporosis?
BMI <22 Crohn's Rheumatoid Ank spond Prolonged immobility Premature menopause
Causes of raised ALP?
Liver - cholestasis, hepatitis, fatty liver
Drugs - phenytoin, carbamazepine, erythromycin
Bones - Paget’s, vit D deficiency
Cancer
Classic rash in pellagra (niacin deficiency)?
Erythematous, pigmented rash in necklace distribution
4D’s of pellagra?
Dementia
Diarrhoea
Dermatitis
Death
Features of glycogen storage disorder type 1? GLUT
Glucose low
Lactic acidosis
Urate high
Triglycerides high
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
What vitamin converts cyanide to a renally cleared, less toxic, metabolite and is the first line medication for cyanide poisoning?
Hydroxocobalamin
What kind of inheritance is shown by the Multiple Endocrine Neoplasia syndromes?
Autosomal dominant
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
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
Which term is used to describe increased bone density?
Osteosclerosis
Looser’s zones are a pathognomonic X-ray finding of which condition?
Osteomalacia
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
What is the most common cause of hypocalcaemia in the community?
Vit D deficiency
What is the most common cause of hypercalcaemia in the community?
Primary hyperparathyroidism
What is the most common cause of hypercalcaemia in the community?
Caeruloplasmin
Which hormone released from fat cells has hypothalamic receptors?
Leptin
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?
Gallstones
What is a cause of increased insulin sensitivity?
ACTH deficiency
Which of the following can cause hypoglycaemia?
a. Atorvastatin
b. Bendrofluazide
c. Glucagon
d. Prednisolone
e. Quinine
Atorvastatin
- 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
- 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
