Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy.
BMPR1A
Hamartoma
JPS
PLE
PTEN
Rapamycin
mTOR
Journal
Gastroenterology research
ISSN: 1918-2805
Titre abrégé: Gastroenterology Res
Pays: Canada
ID NLM: 101519422
Informations de publication
Date de publication:
Feb 2022
Feb 2022
Historique:
received:
11
11
2021
accepted:
23
12
2021
entrez:
4
4
2022
pubmed:
5
4
2022
medline:
5
4
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 35369680
doi: 10.14740/gr1480
pmc: PMC8913018
doi:
Types de publication
Case Reports
Langues
eng
Pagination
33-38Informations de copyright
Copyright 2022, Bell et al.
Déclaration de conflit d'intérêts
Authors declare no conflict of interest in the creation of this case report.
Références
Pediatrics. 2019 Aug;144(2):
pubmed: 31366686
Ther Drug Monit. 2006 Oct;28(5):577-84
pubmed: 17038868
Cancer Lett. 2009 May 18;277(2):149-54
pubmed: 19147279
J Pediatr Surg. 2013 Jan;48(1):e33-7
pubmed: 23331837
Orphanet J Rare Dis. 2014 Jul 15;9:101
pubmed: 25022750
Drug Saf. 2005;28(2):153-81
pubmed: 15691225
World J Gastroenterol. 2013;19(14):2286-92
pubmed: 23599658
ACG Case Rep J. 2021 Aug 25;8(8):e00646
pubmed: 34476273
World J Gastroenterol. 2011 Nov 28;17(44):4839-44
pubmed: 22171123
Nat Rev Drug Discov. 2011 Oct 31;10(11):868-80
pubmed: 22037041
Semin Arthritis Rheum. 2020 Oct;50(5):1073-1080
pubmed: 32911286
J Pediatr Gastroenterol Nutr. 2019 May;68(5):e86-e87
pubmed: 30134330
Hum Mol Genet. 2021 Jun 26;30(14):1273-1282
pubmed: 33822054