title: TSC2/PKD1 contiguous gene syndrome in an adult.
abstract: 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.
authors.affiliation: Department of Urology, CHU Pitié-Salpétrière, Paris, France. thibautculty@yahoo.com
authors.forename: T
authors.initials: T
authors.lastname: Culty
authors.forename: V
authors.initials: V
authors.lastname: Molinie
authors.forename: T
authors.initials: T
authors.lastname: Lebret
authors.forename: L
authors.initials: L
authors.lastname: Savareux
authors.forename: M
authors.initials: M
authors.lastname: Souid
authors.forename: M
authors.initials: M
authors.lastname: Delahousse
authors.forename: H
authors.initials: H
authors.lastname: Botto
mesh_terms: D018207:Angiomyolipoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002885:Chromosomes, Human, Pair 16; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008875:Middle Aged; D009392:Nephrectomy; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D013577:Syndrome; D050396:TRPP Cation Channels; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human