[TSC2/PKD1 contiguous gene syndrome. Report of two cases]. / Syndrome des gènes contigus TSC2/PKD1.
Ann Pathol
; 27(2): 136-40, 2007 Apr.
Article
en Fr
| MEDLINE
| ID: mdl-17909474
ABSTRACT
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.
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Banco de datos:
MEDLINE
Asunto principal:
Proteínas Serina-Treonina Quinasas
/
Proteínas Supresoras de Tumor
/
Enfermedades Renales Poliquísticas
Límite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
Fr
Año:
2007
Tipo del documento:
Article