Chem Path Flashcards by Casper Woods

Which enzyme has reduced activity in Gilbert’s syndrome and is responsible for the elevated unconjugated billirubin levels?

UDP glucuronyl transferase

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State the types of renal tubular acidosis

Type 1 (Distal Renal Tubular Acidosis)
Type 2 (Proximal Renal Tubular Acidosis)
Type 3 (niche)
Type 4 (Hyperkalaemic RTA)

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Characterstics Type 1 RTA

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+

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Characteristics type 4 RTA

Adrenal failure
Mild reduction in serum pH
Hyperkalaemic
Caused by a deficiency of aldosterone

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Name a drug used in the treatment of non-acute gout to reduce urate levels by increasing the fractional excretion of uric acid?

Probenecid

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What drug reduces urate synthesis to treat gout. What enzyme does it inhibit

Allopurinol. Xanthine oxidase

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In general, what pH imbalance is associated with hypokalaemia?

Alkalosis

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Causes of a raied anion gap

GOLDMARK

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]

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Causes of a metabolic acidosis with a normal anion gap

Addison’s disease
Bicarbonate loss (diarrhoea, laxative abuse, Renal Tubular Acidosis)
Chloride gain (Sodium Chloride 0.9% infusion)
Drugs (acetazolamide)

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Enzyme with reduced activity in Gilbert’s syndrome

UDP glucoryl transferase

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Aspirin overdose blood gas

Mixed metabolic acidosis and respiratory alkalosis

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What condition describes inadequate function of the proximal renal tubules of the kidney and is associated with glucosuria, hypophosphatemia and hyperuricosuria?

Fanconi syndrome

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In bile acid synthesis Acyl-CoA cholesterol acyltransferase (ACAT) is the enzyme that converts cholesterol into what?

Cholesterol ester

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What is the most potent pharmacological agent at reducing low density lipoprotein concentration in blood?

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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

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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

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Lomitapide is a low density lipoprotein lowering drug.

What protein does Lomitapide inhibit?

Microsomal triglyceride transfer protein

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Which drug, used in the treatment of acute gout to reduce inflammation, acts by inhibiting polymerisation of tubulin to reduce motility of neutrophils?

Colchicine

A 21 year old woman with Borderline Personality Disorder presents to A&E after taking an overdose of medication. Her blood gas shows a metabolic acidosis with respiratory alkalosis. She refuses to tell you what she has taken but does say she has ringing in her ears. What has she most likely overdosed on?

Salicylates

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 present.

What is the diagnosis?

Type 3 hyperlipoproteinemia

What is the name of the cholesterol transport channel targeted by the drug Ezetimibe?

NPC 1L1

What is the most common joint to be affected in acute gout?

1st metatarsophalangeal

Which protein, found in blood plasma, exchanges triglycerides and cholesterol esters between lipoproteins?

Cholesteryl ester transfer protein (CETP)

A middle aged man presents to A&E with an exquisitely painful left knee.

He is carrying a half empty bottle and says it contains moonshine.

Blood tests show hyperuricaemia and a low Hb. He is under investigation for a sideroblastic anaemia.

Intoxication of what element is responsible for causing his condition?

Lead

A 43 year old man presents to his GP complaining of very smelly stool that is difficult to flush. He has been taking a new medication supposed to help him lose weight prior to his bariatric surgery in a few months’ time. However, he continues to eat takeaways most days of the week. What medication is this patient most likely taking to explain his symptoms?

Orlistat

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

In the liver which cytochrome P450 enzyme catalyses the first step in the formation of bile acids via the classical pathway?

Cholesterol 7 alpha-hydroxylase

An asymptomatic 50 year old man undergoes a 2 hour oral glucose tolerance test. After the 2 hours his plasma glucose is 9.4 mmol/L. What is the diagnosis?

Impaired glucose tolerance

Which term is used to describe increased bone density?

Osteosclerosis

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 enzyme is deficient in this condition?

HGPRT

A 3 year old child is seen in the paediatric clinic after concerns about failure to thrive. He has already been diagnosed with rickets and is on appropriate calcium and vitamin D replacement. Blood tests show him to be hypokalaemic. Urine dip shows the presence of protein and glucose. The pH of the urine is 8.6 (alkaline). There are no ketones in his blood. What is the probable explanation for his failure to thrive, blood test result and urine dip findings?

Fanconi syndrome

Where in the nephron is the majority of bicarbonate reabsorbed?

Proximal Convoluted Tubule

A urine dipstick positive for blood but negative for erythrocytes on direct microscopy suggests the presence of what molecule?

Myoglobin- rhabdomyolysis

Normal anion gap

14-18

Alendronate is an example of what kind of drug?

Bisphosphonate

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 sulphonylureas

where in the gut are bile acids reabsorbed

Terminal ileum

Which enzyme forms the rate limiting step in de novo purine synthesis?

PAT

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

A patient presents to A&E with a red swollen joint at the base of their big toe. They say it is exquisitely painful. Following arthrocentesis, microscopy shows needle shaped crystals. Under polarised light, what colour would you expect these needle shaped crystals to appear when parallel to a red filter?

Orange

What vitamin converts cyanide to a renally cleared, less toxic, metabolite and is the first line medication for cyanide poisoning?

hydroxycobalamin

A 24 year old gentleman is brought into hospital by ambulance. He was recovered by firefighters from a house fire. He has a reduced GCS (M6 V4 E4) and is confused. He has no visible burns and there is no obvious airway oedema. However, he has a cough productive of black sputum. He is complaining about a severe headache and a bitter almond taste in his mouth. Observations reveal he is tachycardic and hypertensive. An ECG shows first degree AV block. What chemical compound is responsible for his symptoms?

cyanide

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

Phytosterolemia (Sitosterolemia) is a disorder characterised by raised levels of plant sterol in the blood. Name a gene which undergoes a mutation causing this disorder?

ABCG5