Tufting enteropathy with EpCAM mutation: case report

Detalhes bibliográficos
Autor(a) principal: Pêgas,Karla Lais
Data de Publicação: 2014
Outros Autores: Cambruzzi,Eduardo, Ferrelli,Regis Schander, Silva,Carolina Soares da, Guedes,Renata Rostirola, Adami,Marina, Dias,Eduardo Montagner, Melere,Melina Utz, Ceza,Marilia Rosso, Steinhaus,Cintia, Epifanio,Matias, Salomon,Julie, Ferreira,Cristina Targa
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442014000300234
Resumo: Tufting enteropathy (TE), also known as intestinal epithelial dysplasia (IED), is a rare congenital enteropathy related to an earlyonset of severe intractable diarrhea due to specific abnormalities of the intestinal epithelium and mutations of the EpCAM gene. TE is characterized by clinical and histological heterogeneity, such as with low or without mononuclear cell infiltration of the lamina propria, and abnormalities of basement membrane. TE can be associated with malformations, other epithelial diseases, or to abnormal enterocytes development and/or differentiation. The authors report a case of a Brazilian child with TE associated with c.556-14A>G mutation in the EpCAM gene (NM_002354.2).
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spelling Tufting enteropathy with EpCAM mutation: case reporttufting enteropathyintractable diarrheaintestinal mucosaepithelial cell adhesion moleculeEpCAM geneTufting enteropathy (TE), also known as intestinal epithelial dysplasia (IED), is a rare congenital enteropathy related to an earlyonset of severe intractable diarrhea due to specific abnormalities of the intestinal epithelium and mutations of the EpCAM gene. TE is characterized by clinical and histological heterogeneity, such as with low or without mononuclear cell infiltration of the lamina propria, and abnormalities of basement membrane. TE can be associated with malformations, other epithelial diseases, or to abnormal enterocytes development and/or differentiation. The authors report a case of a Brazilian child with TE associated with c.556-14A>G mutation in the EpCAM gene (NM_002354.2).Sociedade Brasileira de Patologia Clínica2014-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442014000300234Jornal Brasileiro de Patologia e Medicina Laboratorial v.50 n.3 2014reponame:Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)instname:Sociedade Brasileira de Patologia (SBP)instacron:SBP10.5935/1676-2444.20140021info:eu-repo/semantics/openAccessPêgas,Karla LaisCambruzzi,EduardoFerrelli,Regis SchanderSilva,Carolina Soares daGuedes,Renata RostirolaAdami,MarinaDias,Eduardo MontagnerMelere,Melina UtzCeza,Marilia RossoSteinhaus,CintiaEpifanio,MatiasSalomon,JulieFerreira,Cristina Targaeng2014-10-02T00:00:00Zoai:scielo:S1676-24442014000300234Revistahttp://www.scielo.br/jbpmlhttps://old.scielo.br/oai/scielo-oai.php||jbpml@sbpc.org.br1678-47741676-2444opendoar:2014-10-02T00:00Jornal Brasileiro de Patologia e Medicina Laboratorial (Online) - Sociedade Brasileira de Patologia (SBP)false
dc.title.none.fl_str_mv Tufting enteropathy with EpCAM mutation: case report
title Tufting enteropathy with EpCAM mutation: case report
spellingShingle Tufting enteropathy with EpCAM mutation: case report
Pêgas,Karla Lais
tufting enteropathy
intractable diarrhea
intestinal mucosa
epithelial cell adhesion molecule
EpCAM gene
title_short Tufting enteropathy with EpCAM mutation: case report
title_full Tufting enteropathy with EpCAM mutation: case report
title_fullStr Tufting enteropathy with EpCAM mutation: case report
title_full_unstemmed Tufting enteropathy with EpCAM mutation: case report
title_sort Tufting enteropathy with EpCAM mutation: case report
author Pêgas,Karla Lais
author_facet Pêgas,Karla Lais
Cambruzzi,Eduardo
Ferrelli,Regis Schander
Silva,Carolina Soares da
Guedes,Renata Rostirola
Adami,Marina
Dias,Eduardo Montagner
Melere,Melina Utz
Ceza,Marilia Rosso
Steinhaus,Cintia
Epifanio,Matias
Salomon,Julie
Ferreira,Cristina Targa
author_role author
author2 Cambruzzi,Eduardo
Ferrelli,Regis Schander
Silva,Carolina Soares da
Guedes,Renata Rostirola
Adami,Marina
Dias,Eduardo Montagner
Melere,Melina Utz
Ceza,Marilia Rosso
Steinhaus,Cintia
Epifanio,Matias
Salomon,Julie
Ferreira,Cristina Targa
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Pêgas,Karla Lais
Cambruzzi,Eduardo
Ferrelli,Regis Schander
Silva,Carolina Soares da
Guedes,Renata Rostirola
Adami,Marina
Dias,Eduardo Montagner
Melere,Melina Utz
Ceza,Marilia Rosso
Steinhaus,Cintia
Epifanio,Matias
Salomon,Julie
Ferreira,Cristina Targa
dc.subject.por.fl_str_mv tufting enteropathy
intractable diarrhea
intestinal mucosa
epithelial cell adhesion molecule
EpCAM gene
topic tufting enteropathy
intractable diarrhea
intestinal mucosa
epithelial cell adhesion molecule
EpCAM gene
description Tufting enteropathy (TE), also known as intestinal epithelial dysplasia (IED), is a rare congenital enteropathy related to an earlyonset of severe intractable diarrhea due to specific abnormalities of the intestinal epithelium and mutations of the EpCAM gene. TE is characterized by clinical and histological heterogeneity, such as with low or without mononuclear cell infiltration of the lamina propria, and abnormalities of basement membrane. TE can be associated with malformations, other epithelial diseases, or to abnormal enterocytes development and/or differentiation. The authors report a case of a Brazilian child with TE associated with c.556-14A>G mutation in the EpCAM gene (NM_002354.2).
publishDate 2014
dc.date.none.fl_str_mv 2014-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442014000300234
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442014000300234
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/1676-2444.20140021
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv
Sociedade Brasileira de Patologia Clínica
publisher.none.fl_str_mv
Sociedade Brasileira de Patologia Clínica
dc.source.none.fl_str_mv Jornal Brasileiro de Patologia e Medicina Laboratorial v.50 n.3 2014
reponame:Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
instname:Sociedade Brasileira de Patologia (SBP)
instacron:SBP
instname_str Sociedade Brasileira de Patologia (SBP)
instacron_str SBP
institution SBP
reponame_str Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
collection Jornal Brasileiro de Patologia e Medicina Laboratorial (Online)
repository.name.fl_str_mv Jornal Brasileiro de Patologia e Medicina Laboratorial (Online) - Sociedade Brasileira de Patologia (SBP)
repository.mail.fl_str_mv ||jbpml@sbpc.org.br
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