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NBME p2ck_form8 Answers

step2ck_form8/Block 1/Question#20 (reveal difficulty score)
A 22-year-old woman comes to the physician ...
Deficiency of serum glucuronosyltransferase ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ
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 +0 
submitted by โˆ—step_prep(116),
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 +0 
submitted by โˆ—azibird(256),

Yes, this is Gilbert syndrome. Here's my beef with this question: UDP-glucuronosyltransferase is a liver enzyme. Conjugation takes place in the liver, not the serum.

Here's how you can diagnose Gilbert syndrome according to UTD: "A reduction in hepatic bilirubin-UGT activity, which is approximately 30 percent of normal" https://www.uptodate.com/contents/gilbert-syndrome-and-unconjugated-hyperbilirubinemia-due-to-bilirubin-overproduction

Here's a picture from UTD of the enzyme sitting HAPPILY WITHIN THE HEPATOCYTE: https://www.uptodate.com/contents/image?imageKey=GAST%2F52393&topicKey=GAST%2F3578&search=gilbert%20syndrome&rank=1~53&source=see_link

So how is this a "deficiency of serum glucuronosyltransferase"?

Meanwhile, according to FA2020 p394, Gilbert syndrome also causes "impaired bilirubin uptake." Aka "Impaired hepatic storage of serum bilirubin"

My rage knows no bounds.

azibird  Maybe FA is wrong and Gilbert syndrome does not involve impaired bilirubin uptake. "Disorders of bilirubin uptake and intrahepatic storage are only infrequently described in the literature (19), and the clinical significance of these disorders remains to be confirmed." https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821713/ +  



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