Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach

Detalhes bibliográficos
Autor(a) principal: Oliveira, PH
Data de Publicação: 2013
Outros Autores: Cunha, C, Almeida, S, Ferreira, R, Maia, S, Saraiva, JM, Lopes, MF
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.4/1493
Resumo: Juvenile polyposis of infancy is the most severe and life-threatening form of juvenile polyposis. This disease typically presents in the first two years of life with gastrointestinal bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis of juvenile polyposis of infancy at 6years of age. A 3.34Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes. The disease course was severe with diarrhea, abdominal pain, inanition, refractory anemia, rectal bleeding, hypoalbuminemia, and exudative enteropathy. A sub-total colectomy, combined with intraoperative endoscopic removal of ileal and rectal stump polyps, was required for palliative disease control.
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spelling Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approachPolipose Adenomatosa FamilialCriançaJuvenile polyposis of infancy is the most severe and life-threatening form of juvenile polyposis. This disease typically presents in the first two years of life with gastrointestinal bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis of juvenile polyposis of infancy at 6years of age. A 3.34Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes. The disease course was severe with diarrhea, abdominal pain, inanition, refractory anemia, rectal bleeding, hypoalbuminemia, and exudative enteropathy. A sub-total colectomy, combined with intraoperative endoscopic removal of ileal and rectal stump polyps, was required for palliative disease control.ElsevierRIHUCOliveira, PHCunha, CAlmeida, SFerreira, RMaia, SSaraiva, JMLopes, MF2013-01-31T17:56:33Z20132013-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/1493engJ Pediatr Surg. 2013 Jan;48(1):e33-7info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-11T14:22:45Zoai:rihuc.huc.min-saude.pt:10400.4/1493Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:03:59.462010Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach
title Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach
spellingShingle Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach
Oliveira, PH
Polipose Adenomatosa Familial
Criança
title_short Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach
title_full Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach
title_fullStr Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach
title_full_unstemmed Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach
title_sort Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach
author Oliveira, PH
author_facet Oliveira, PH
Cunha, C
Almeida, S
Ferreira, R
Maia, S
Saraiva, JM
Lopes, MF
author_role author
author2 Cunha, C
Almeida, S
Ferreira, R
Maia, S
Saraiva, JM
Lopes, MF
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv RIHUC
dc.contributor.author.fl_str_mv Oliveira, PH
Cunha, C
Almeida, S
Ferreira, R
Maia, S
Saraiva, JM
Lopes, MF
dc.subject.por.fl_str_mv Polipose Adenomatosa Familial
Criança
topic Polipose Adenomatosa Familial
Criança
description Juvenile polyposis of infancy is the most severe and life-threatening form of juvenile polyposis. This disease typically presents in the first two years of life with gastrointestinal bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis of juvenile polyposis of infancy at 6years of age. A 3.34Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes. The disease course was severe with diarrhea, abdominal pain, inanition, refractory anemia, rectal bleeding, hypoalbuminemia, and exudative enteropathy. A sub-total colectomy, combined with intraoperative endoscopic removal of ileal and rectal stump polyps, was required for palliative disease control.
publishDate 2013
dc.date.none.fl_str_mv 2013-01-31T17:56:33Z
2013
2013-01-01T00:00:00Z
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.4/1493
url http://hdl.handle.net/10400.4/1493
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Pediatr Surg. 2013 Jan;48(1):e33-7
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publisher.none.fl_str_mv Elsevier
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