RT Journal Article
T1 Sirolimus for the Treatment of Juvenile Polyposis in Childhood.
A1 Martín-Masot, Rafael
A1 Cardelo Autero, Nerea
A1 Ortiz Pérez, Pilar
A1 Torcuato Rubio, Encarnación
A1 Vázquez Pedreño, Luis
A1 Gallego Fernández, Carmen
A1 Blasco-Alonso, Javier
A1 Navas-López, Víctor Manuel
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.
SN 2326-3253
YR 2021
FD 2021-08-25
LK https://hdl.handle.net/10668/24419
UL https://hdl.handle.net/10668/24419
LA en
DS RISalud
RD Apr 6, 2025