Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach
Autor(a) principal: | |
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Data de Publicação: | 2013 |
Outros Autores: | , , , , , |
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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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 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
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 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799131702491086848 |