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Minerva Urologica e Nefrologica 2006 December;58(4):351-4

Copyright © 2006 EDIZIONI MINERVA MEDICA

language: English

TSC2/PKD1 contiguous gene syndrome in an adult

Culty T. 1, Molinie V. 2, Lebret T. 3, Savareux L. 3, Souid M. 4, Delahousse M. 5, Botto H. 3

1 Department of Urology CHU Pitié-Salpétrière, Paris, France 2 Department of Pathology Saint-Joseph Hospital, Paris, France 3 Department of Urology Foch Hospital, Suresnes, France 4 Department of Nephrology Poissy-St-Germain-en-Laye Hospital Poissy, France 5 Department of Nephrology Foch Hospital, Suresnes, France


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A 48-year-old woman with a history of autosomal-dominant polycystic kidney disease (ADPKD), was found to have multiple renal angiomyolipomas on a pathological examination after nephrectomy. The clinical and pathological presentation is consistent with the diagnosis of TSC2/PKD1 contiguous gene syndrome, caused by the simultaneous loss of TSC2 and PKD1, the two major genes for tuberous sclerosis complex and ADPKD.

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