[TSC2/PKD1 contiguous gene syndrome. Report of two cases].
The two major genes responsible for autosomal dominant polycystic kidney disease and complex tuberous sclerosis are located on chromosome 16 at position 16p13.3, separated by only a few nucleotides. A simultaneous loss of both genes has been termed "the TSC2/PKD1 contiguous gene syndrome". It has been described essentially in young children. We report 2 new cases in French adults, in whom the diagnosis has been made fortuitously on the macroscopic and microscopic examination of the nephrectomy specimen. This diagnosis should be considered for the association of a polycystic kidney disease and numerous angiomyolipomas. It is necessary to set up a specific follow-up of both diseases.
Yadaden
Tarik
T
Service d'Anatomie et de Cytologie Pathologiques, Université Paris-Sud 11, APHP Hôpital de Bicêtre, 78 rue du Général Leclerc, 94275 Le Kremlin Bicêtre Cedex.
Molinié
Vincent
V
Ples
Raluca
R
Lazure
Thierry
T
Benoît
Gérard
G
Yonneau
Laurent
L
Ferlicot
Sophie
S
D000328:Adult; D025063:Chromosome Disorders / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D007690:Polycystic Kidney Diseases / Q000235:genetics* / Q000473:pathology*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000081382:Pyruvate Dehydrogenase Acetyl-Transferring Kinase; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D000081382:Pyruvate Dehydrogenase Acetyl-Transferring Kinase; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D017346:Protein Serine-Threonine Kinases