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NBME 22 Answers

nbme22/Block 1/Question#21 (33.6 difficulty score)
A 30-year-old man comes to the physician ...

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submitted by usmleuser007(377),
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1) PADDK = cnyyplsoist 2C)(P

)2 ADKRP = iccduty/prlo biiynoftns (CFP) -- silraim ot ylpisosncyt

FPC itpoern si dnufo no the pmyrair caili fo paleteiih clesl of ccirolat dan daylmleur coetlgnilc dsctu adn ccaoitgnoylshe of leib suctd

CFP ettcsanri hwti DPKDA ipetorn P2C dan yma olsa ttpipirceaa ni tsih aiunetgorl aptyawh of eht oenrhnmsaeocsy niontcfu fo het rpryami iacl,i micluca iignl,asgn nad PPC.

submitted by dr.xx(143),
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eTh mtos nomcom nda eesevr fmor of omaltusoa naitmond ypscocltyi ikdyen dessiea DA)P(KD rseults rmof uonstmait in ,K1DP ocnedign li-1notpysyc .(PC.1)


yotsubato  Here we thank FA for failing us yet again. Giving us PKD1, but not polycystin. I got the question right but I just guessed it because nothing else made sense. +14  
usmleuser007  Autosomal dominant polycystic kidney disease 1) occurs in patients with mutations in the gene (PKD1) encoding polycystin-1 (PC1). 2) PC1 is a complex polytopic membrane protein expressed in cilia that undergoes autoproteolytic cleavage at a G protein–coupled receptor proteolytic site (GPS). 3) A quarter of PKD1 mutations are missense variants, though it is not clear how these mutations promote disease. 4) GPS cleavage is required for PC1 trafficking to cilia. 5) A common feature among a subset of pathogenic missense mutations is a resulting failure of PC1 to traffic to cilia regardless of GPS cleavage. 6) Missense mutation in the gene encoding polycystin-2 (PC2) that prevented this protein from properly trafficking to cilia.  +2  
waterloo  yotsubo - the book is already so thicc. I think you made a great point tho, nothing else made sense. Sometimes you can't know everything on the test, but you can still play the game. +1