2026-05-28T11:17:16Zhttps://riuma.uma.es/rest/oai/request

oai:riuma.uma.es:10630/339942026-02-03T11:20:00Zcom_10630_2254col_10630_37953

00925njm 22002777a 4500 dc Martin‐Masot, Rafael author Cardelo Autero, Nerea author Ortiz Pérez, María PIlar author Torcuato-Rubio, Encarnación author Vázquez Pedreño, Luis author Gallego Fernández, Carmen author Blasco Alonso, Javier author Navas-López, Víctor Manuel author 2021 Juvenile polyposis syndrome (JPS) is a rare disease with an autosomal dominant inheritance pattern characterized by the development of multiple hamartomatous polyps in the gastrointestinal tract. The most frequent signs and symptoms are recurrent abdominal pain, rectal bleeding, anemia, and iron deficiency. The treatment of JPS is symptomatic, requiring serial endoscopic polypectomies or intestinal resections in the most severe cases. We describe the clinical case of a patient with JPS with a childhood juvenile polyposis phenotype because of a mutation on the SMAD4 gene, who received treatment with sirolimus successfully. Martín-Masot R, Cardelo Autero N, Ortiz Pérez P, Torcuato Rubio E, Vázquez Pedreño L, Gallego Fernández C, Blasco-Alonso J, Navas-López VM. Sirolimus for the Treatment of Juvenile Polyposis in Childhood. ACG Case Rep J. 2021 Aug 25;8(8):e00646. https://hdl.handle.net/10630/33994 10.14309/crj.0000000000000646 Intestinos - Enfermedades Sirolimus for the Treatment of Juvenile Polyposis in Childhood