RT Journal Article
T1 Sirolimus for the Treatment of Juvenile Polyposis in Childhood
A1 Martin‐Masot, Rafael
A1 Cardelo Autero, Nerea
A1 Ortiz Pérez, María PIlar
A1 Torcuato-Rubio, Encarnación
A1 Vázquez Pedreño, Luis
A1 Gallego Fernández, Carmen
A1 Blasco Alonso, Javier
A1 Navas-López, Víctor Manuel
K1 Intestinos - Enfermedades
AB 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.
PB Wolters Kluwer Health
YR 2021
FD 2021
LK https://hdl.handle.net/10630/33994
UL https://hdl.handle.net/10630/33994
LA eng
NO 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.
DS RIUMA. Repositorio Institucional de la Universidad de Málaga
RD 20 ene 2026