[Familial adenomatous polyposis: review of the literature and report of 3 cases].
The Authors describe three cases of Familial Adenomatous Polyposis, (FAP), in patients of the same family, mother and two daughters, with different stages of the disease. Familial adenomatous polyposis is a mendelian dominant inherited syndrome with an incidence of 1:11,000, caused by an alteration of APC gene, which causes multiple disorders of the development ecto-, endo- and mesoderma. The syndrome is characterized by the presence of adenomatous polyps in the gastroenteric tract, mostly in colon-rectum and duodenum with demonstrated adenoma-carcinoma sequence. In the family here reported a case of familial adenomatous polyposis at the adenomatous stage and two of cancer of colon-rectum are registered. In the first case surgery had a preventive aim, and ileo-rectal anastomosis was performed; in the other two cases the treatment was Miles operation with radical intention.
Bronzino
P
P
Dipartimento Di.S.C.A.T (Dipartimento di Scienze Chirurgiche Specialistiche, Anestesiologia e Trapianti d'Organo), Università degli Studi di Genova.
Rassu
P C
PC
Cassinelli
G
G
Stanizzi
T
T
Casaccia
M
M
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D000293:Adolescent; D000328:Adult; D001003:Anal Canal / Q000601:surgery; D000714:Anastomosis, Surgical; D002648:Child; D003125:Colostomy; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007082:Ileum / Q000601:surgery; D012007:Rectum / Q000601:surgery