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Archivos de Pediatría del Uruguay

On-line version ISSN 1688-1249


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 1688-1249.

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.


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