TSC2/PKD1 contiguous gene syndrome in an adult.
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.
Culty
T
T
Department of Urology, CHU Pitié-Salpétrière, Paris, France. thibautculty@yahoo.com
Molinie
V
V
Lebret
T
T
Savareux
L
L
Souid
M
M
Delahousse
M
M
Botto
H
H
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*
D050396:TRPP Cation Channels; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; C000624653:TSC2 protein, human