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submitted by neonem(568),
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meningitis  Why cant it be protoporphyrinogen oxidase? It was because of that reason (Increased AST and ALT) I thought it wasnt uroporphyrinogen decarb. My train of thought was: "wow, mitochondria are messed up.. there must be a lot of intermediates in there,therefore the Uroporph decarb must OK." +  
arlenieeweenie  FA 2019 pg. 417, the later on the defect in the heme synthesis pathway is the one more associated with skin findings! Also according to this year's edition uroporphyrinogen synthase is now known as prophobilinogen deaminase +6  
nobody  AMBOSS has estrogen therapy listed as a susceptibility factor for PCT. I could not find a link between elevated AST/ALT and estrogen therapy that would occur 15 years into treatment. +  


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hungrybox  agreed "granular deposits" rules out MCD (the only other nephrotic syndrome) because MCD is IF (-) +4  
cooldudeboy1  could someone explain why the other choices are ruled out by biopsy? +  
arlenieeweenie  @cooldudeboy1 PSGN does have a granular immunofluorescence, but there is no previous illness or hematuria mentioned so you can rule that out. Goodpasture is classically linear IF since they're antibodies against the GBM. IgA nephropathy is mesangial IF so it would deposit more in the middle. Minimal change wouldn't show anything on IF +2  
qball  I know First Aid states MPGN as a nephritic disease but I think it can present as nephritic or nephrotic syndrome. https://emedicine.medscape.com/article/240056-clinical. Of course, the renal biopsy helps give it away but I wouldn't be so quick as to rule out MPGN +1  
taediggity  Totally agree w/ you Qball... I thought MPGN too, but I think Penicillamine makes it Membranous Nephropathy +  


submitted by celeste(82),
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tinydoc  Cardiac Tumors in adults -- usually myxoma Cardiac tumors in kids -- usually Rhabdomyoma ( ass. w/ Tuberous Sclerosis. ) --> its in the first aid rapid Review +15  
tinydoc  Cardiac Tumors in adults -- usually myxoma Cardiac tumors in kids -- usually Rhabdomyoma ( ass. w/ Tuberous Sclerosis. ) --> its in the first aid rapid Review +2  
arlenieeweenie  He also has seizures and pink-yellow papules, which I think they're trying to describe one of the characteristic ash-leaf or shagreen patches (doesn't sound like either of them to me lol) but that all points to tuberous sclerosis +  
pg32  @arlenieeweenie I think they are actually trying to describe angiofibromas that appear on the face in tuberous sclerosis, though I still think their description is pretty bad haha +5  
lovebug  Tuberous sclerosis. mnemonic : HAMAR(->Rhabdomyoma)TOMASS. FA19 page.513 +  
naarim15  the pink/yellow papules are adenoma sebaceum - "reddish nodules in a butterfly appearance areound the nose and cheeks, acne-like appearance" https://next.amboss.com/us/article/Rk0lnT#Z018f418df303f0090d6f81837408e107 +