rubensssss
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What is Von hippel lindau disease and can it be diagnosticated?
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Ruben sssss
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| adeelmd
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it involves hemangiomas in various organs ( i forget which ones) and the bilateral Renal cell cArcinoma.... So If you had bilateral rcc, and hemangiomas.... wouldn't that diognose it??? I don't think there is a specific test....
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| adeelmd
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sorry, hemangioblastomas of the brain stem, cerebellum, spinal cord,
thre are cysts of pancreas, liver, kidney... It is autosomal dominant mutation of a tumor supprssor gene on 3p....
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| mani
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agree with adeelmd, multiple hemagioblastomas and bilat renal cell ca, and sometimes pancreatic cysts
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| rubensssss
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Thanks adeelmd i Agree.
But if I have a patient what I have to see to think in this disease.?
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| adeelmd
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well if a patient is diagnosed with bilateral rcc, that would probably be enough for me (for a boards question i mean).... but any stem that has a patient with more than one ca should start to get you to think of vhl rb p53 chromosome 17 etc, and the individual tumors lead you to the specific defect. as to how you would confirm the diagnosis, the only way they could do it would be through some sort of dna testing so I would look for options like that... BUT I seriously doubt they would ask how to diagnose it because that's more of a step 2 than step 1 thing.. for step 1 i think it's enough to know what vhl is and how it presents..
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| rubensssss
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Thanks adeelmd.
very helpful.
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| Trifudis
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Let's remember the retinal hemangioblastoma (Hippel tummor)
Regards
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