[Presymptomatic detection of familial colonic polyposis].
In familial adenomatous polyposis coli (APC) it is possible to detect APC carriers either by research of bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE) or by genetic diagnosis (APC gene is localized in 5q21). These detections were performed in 33 patients of four families with the same positivity for genetic typing (11 patients) or for CHRPE (11 patients) which thus avoided annual coloscopy.
Ducroix
J P
JP
Service de médecine interne, CHU Amiens nord.
Lenaerts
C
C
Milazzo
S
S
Dupas
J L
JL
Olschwang
S
S
Lafont
B
B
Smail
A
A
Baillet
J
J
Puissan
C
C
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000517:prevention & control*; D000328:Adult; D002648:Child; D005819:Genetic Markers; D006801:Humans; D006984:Hypertrophy; D010857:Pigment Epithelium of Eye / Q000473:pathology
D005819:Genetic Markers
Dépistage présymptomatique de la polypose colique familiale.