Tufting enteropathy with EpCAM mutation: case report
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 hist...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Patologia Clínica
2014-06-01
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| Series: | Jornal Brasileiro de Patologia e Medicina Laboratorial |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442014000300234&lng=en&tlng=en |
| _version_ | 1818037841810161664 |
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| author | Karla Lais Pêgas Eduardo Cambruzzi Regis Schander Ferrelli Carolina Soares da Silva Renata Rostirola Guedes Marina Adami Eduardo Montagner Dias Melina Utz Melere Marilia Rosso Ceza Cintia Steinhaus Matias Epifanio Julie Salomon Cristina Targa Ferreira |
| author_facet | Karla Lais Pêgas Eduardo Cambruzzi Regis Schander Ferrelli Carolina Soares da Silva Renata Rostirola Guedes Marina Adami Eduardo Montagner Dias Melina Utz Melere Marilia Rosso Ceza Cintia Steinhaus Matias Epifanio Julie Salomon Cristina Targa Ferreira |
| author_sort | Karla Lais Pêgas |
| collection | DOAJ |
| 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). |
| first_indexed | 2024-12-10T07:33:15Z |
| format | Article |
| id | doaj.art-a29772fdd15041b0b6a5ca30e96b1b48 |
| institution | Directory Open Access Journal |
| issn | 1678-4774 |
| language | English |
| last_indexed | 2024-12-10T07:33:15Z |
| publishDate | 2014-06-01 |
| publisher | Sociedade Brasileira de Patologia Clínica |
| record_format | Article |
| series | Jornal Brasileiro de Patologia e Medicina Laboratorial |
| spelling | doaj.art-a29772fdd15041b0b6a5ca30e96b1b482022-12-22T01:57:29ZengSociedade Brasileira de Patologia ClínicaJornal Brasileiro de Patologia e Medicina Laboratorial1678-47742014-06-0150323423710.5935/1676-2444.20140021S1676-24442014000300234Tufting enteropathy with EpCAM mutation: case reportKarla Lais PêgasEduardo CambruzziRegis Schander FerrelliCarolina Soares da SilvaRenata Rostirola GuedesMarina AdamiEduardo Montagner DiasMelina Utz MelereMarilia Rosso CezaCintia SteinhausMatias EpifanioJulie SalomonCristina Targa FerreiraTufting 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).http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442014000300234&lng=en&tlng=enenteropatia com tufos epiteliaisdiarreia intratávelmucosa intestinalmolécula de adesão das células epiteliaisgene EPCAM |
| spellingShingle | Karla Lais Pêgas Eduardo Cambruzzi Regis Schander Ferrelli Carolina Soares da Silva Renata Rostirola Guedes Marina Adami Eduardo Montagner Dias Melina Utz Melere Marilia Rosso Ceza Cintia Steinhaus Matias Epifanio Julie Salomon Cristina Targa Ferreira Tufting enteropathy with EpCAM mutation: case report Jornal Brasileiro de Patologia e Medicina Laboratorial enteropatia com tufos epiteliais diarreia intratável mucosa intestinal molécula de adesão das células epiteliais gene EPCAM |
| title | 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_short | Tufting enteropathy with EpCAM mutation: case report |
| title_sort | tufting enteropathy with epcam mutation case report |
| topic | enteropatia com tufos epiteliais diarreia intratável mucosa intestinal molécula de adesão das células epiteliais gene EPCAM |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442014000300234&lng=en&tlng=en |
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