MEDgems 2

Question 1

what receptor on familial hypocalciuric hypercalcaemia is mutated?

Answer 1

calcium sensing receptor

Question 2

Hydroxocobalamin is a vitamine that converts ___ into a less toxic metabolite and is first line in cyanide poisoning

Answer 2

Hydroxocobalamin

Question 3

An alcoholic is admitted for treatment of alcohol withdrawal. He is started on chlordiazepoxide and vitamin supplementation. The patient is found to have a low serum sodium and so the F1 starts him on IV fluids and his serum sodium rises rapidly. Over the next few days he becomes progressively lethargic, has trouble speaking, swallowing and walking.

What is the most likely diagnosis?

Answer 3

cerebral pontine myelinolysis

Question 4

purine is made by?

Answer 4

the de novo pathway
salvage pathway

Question 5

what does cholestyramine bind to to break down cholesterol?

Answer 5

bile acids stops them being reabsorbed = greater amount of cholesterol > bile acids
to maintain secretion of bile acids
= lowers cholesterol

Question 6

looser zone is pathognomonic X-ray finding of what?

Answer 6

osetomalacia

Question 7

acute intermittent porphyria what test?

Answer 7

urine porphobilinogen

Question 8

deficiency Hydroxymethylbilane synthase

Answer 8

build up of toxic haem

Question 9

non acute porphyria?

Answer 9

porphyria cutanae tarda - most common
vesicles on sun exposed areas
skin crusting
scarring
pigmentation

urinary uroporphyrins

Question 10

Congenital Erythopoietic porphyria (CEP)

Answer 10

present in infancy
sun exposure
severe blistering