Journal article
Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy
Gastroenterology research, Vol.15(1), pp.33-38
01/10/2022
DOI: 10.14740/gr1480
PMCID: PMC8913018
PMID: 35369680
Abstract
In the following clinical case of infantile juvenile polyposis syndrome (JPS), administration of a pharmacologic agent sirolimus was associated with reduced disease burden without need for bowel resection. The positive impact included improvement in protein-losing enteropathy, decreased intestinal blood loss, and improved weight gain. In addition, the number of polyps resected per unit time and frequency of upper and lower endoscopic evaluation needed dropped after initiation of sirolimus. This case report describes a positive clinical outcome and discusses the use of sirolimus with aggressive polypectomy as a potential treatment for the rare disease entity of polygenic infantile JPS. Through this case, we aim to emphasize that while administration of this drug may mitigate many sequelae of infantile JPS, it does not appear to eliminate the need for aggressive polypectomy.
Details
- Title: Subtitle
- Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy
- Creators
- Lisa Dillon Bell - University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA Division of Medical Genetics and Genomics, University of Iowa Stead Family Children’s Hospital, Iowa City, IA 52242, USA Division of Pediatric Gastroenterology, University of Iowa Stead Family Children’s Hospital, Iowa City, IA 52242, USAJohn A. Bernat - University of IowaRiad Rahhal - University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA Division of Medical Genetics and Genomics, University of Iowa Stead Family Children’s Hospital, Iowa City, IA 52242, USA Division of Pediatric Gastroenterology, University of Iowa Stead Family Children’s Hospital, Iowa City, IA 52242, USA
- Resource Type
- Journal article
- Publication Details
- Gastroenterology research, Vol.15(1), pp.33-38
- DOI
- 10.14740/gr1480
- PMID
- 35369680
- PMCID
- PMC8913018
- NLM abbreviation
- Gastroenterology Res
- ISSN
- 1918-2805
- eISSN
- 1918-2813
- Publisher
- Elmer Press
- Alternative title
- Polygenic Infantile JPS Managed With Sirolimus
- Language
- English
- Date published
- 01/10/2022
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics; Gastroenterology, Hepatology, Pancreatology, and Nutrition
- Record Identifier
- 9984354517402771
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