Archivos de Pediatría del Uruguay
Print version ISSN 0004-0584
NACIF, Patricia Alejandra; CABALLERO, Graciela; GUTIERREZ, Carmen and MENDEZ, Virginia. Poliposis adenomatosa familiar: Presentación de dos casos. Arch. Pediatr. Urug. [online]. 2006, vol.77, n.3, pp. 262-266. ISSN 0004-0584.
Summary Familial adenomatous polyposis is the most common genetic syndrome, although not common in children. It has an estimated prevalence of 1:17.000 and 1:5.000. Inheritance can be autosomic dominant or by spontaneous mutations which occurs in approximately 20% of the cases. It is characterized by the presence of multiple adenomatous polyps not only in the colon but also in other regions of the gastrointestinal tract. Expression can vary from gastrointestinal symptoms or not; even asymptomatic. Malignization risk is 100%. Total proctocolectomy is the selective treatment. Two clinical cases have been found in the gastroenterology unit. One had low digestive bleeding and the other one was found by familiar screening. Familial adenomatous polyposis was confirmed in both.
Keywords : ADENOMATOUS POLYPOSIS COLI; INTESTINAL POLYPS.