9-15-09-Dr-David-Shure--vonHippelLindauSyndrome-PendredSyndrome-n-RenalCellCarcinoma

9-15-09-Dr-David-Shure--vonHippelLindauSyndrome-PendredSyndrome-n-RenalCellCarcinoma

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Renal Cell Carcinoma and VHL Disease David Shure, MD September 15, 2009 Overview Sensorineural hearing loss DD Pendred Syndrome RCC VHL dz/ protein as TSG HIF 1 Endolymphatic Sac Tumors VHL Family Alliance Surveillance Protocols SSNHL: DD VHL: Bilat endolymphatic sac tumors Pendred Syndrome Viral Cochleitis: HSV, parainfluenza, influenza, mumps, measles Drugs: aminoglycosides, vancomycin, erythromycin, loop diuretics, cisplatin, antimalarials Neoplasm: acoustic neuroma, meningeal carcinomatosis, lymphoma, leukemia, plasma cell dyscrasias AI Dz: SLE, APLA, RA, Sjogrens, vasculitides, temporal arteritis Vascular: CVA, TIA Other: Menieres dz, Paget Dz, MS Pendred Syndrome First described in 1896 Phenotype: coexistence of deafness and goiter 1996 syndrome mapped to chromosome 7 Gene: PDS codes for a 780 aa protein ie pendrin, functions as an ion transporter Autosomal recessive Deafness and goiter Gene isolated (PDS), protein: pendrin mutation in a transport protein ("pendrin") on chromosome 7q, which transports iodide into the exocytotic vesicles in which thyroid hormone is synthesized Pendred Syndrome Radiology–CT/MRI temporal bone Enlargement of endolymphatic system, most readily detected by documenting an enlarged vestibular aqueduct Subset: have a Mondini defect, a malformation in which the cochlear turns are replaced by a single cavity or a rudimentary cochlea Perchlorate test: determines whether iodide is normally organified into thyroglobulin, permits determination whether EVA pts might have Pendred syn. Under conditions of sufficient nutritional iodide, most individuals with Pendred are clinically and biochemically euthyroid. Pendred Syndrome Radiology–CT/MRI temporal bone Enlargement of endolymphatic system, most readily detected by documenting an enlarged vestibular aqueduct Subset: have a Mondini defect, a malformation in which the cochlear turns are replaced by a single cavity or a rudimentary cochlea Perchlorate test: determines whether iodide is normally organified into thyroglobulin, permits determination whether EVA pts might have Pendred syn. Under conditions of sufficient nutritional iodide, most individuals with Pendred are clinically and biochemically euthyroid.
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Mondini Defect CT Temporal Bone Black Arrow: sac like cochlea White arrow: amorphous vestibule without defined semicircular canals. Pendrin in the Kidney
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This note was uploaded on 12/24/2011 for the course STEP 1 taught by Professor Dr.aslam during the Fall '11 term at Montgomery College.

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9-15-09-Dr-David-Shure--vonHippelLindauSyndrome-PendredSyndrome-n-RenalCellCarcinoma

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