Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center,
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Jornal de Pediatria (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572020000600710 |
Resumo: | Abstract Objectives: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Method: Observational, cross-sectional, retrospective study. The laboratory records of 1,546 individuals (median age = 36 months, 25–75 IQR = 10–108; males = 810) submitted to the TfIEF test during the period were reviewed. Results: Fifty-one individuals (3%) had an altered TfIEF pattern (5 ± 2.8 cases/year; median age = 24 months, 25–75 IQR = 11–57 months; males = 27, 53%). For 14 of them, data on diagnosis conclusion were available (classic galactosemia = 4; hereditary fructose intolerance = 4; peroxisomal diseases = 2; PMM2-CDG = 2; MPDU1-CDG = 1; SLC35A2-CDG = 1).Comparing the cases with the normal and altered TfIEF patterns, there was a higher prevalence of altered cases in the age group from 11 months to 3 years. There was an increase in the likelihood of change in TfIEF, especially in the presence of inverted nipples or liver disease. Conclusions: The data suggest that the investigation of a case with suspected CDG is a complex problem, being aggravated by the existence of other IEMs (inborn errors of metabolism) associated with altered TfIEF pattern and lack of access to confirmatory tests. The presence of inverted nipples and liver disease, especially in individuals aged 11 months to 3 years, should suggest the need for TfIEF investigation. |
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Jornal de Pediatria (Online) |
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Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center,Isoelectric focusingTransferrinCongenital disorders of glycosylationScreeningAbstract Objectives: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Method: Observational, cross-sectional, retrospective study. The laboratory records of 1,546 individuals (median age = 36 months, 25–75 IQR = 10–108; males = 810) submitted to the TfIEF test during the period were reviewed. Results: Fifty-one individuals (3%) had an altered TfIEF pattern (5 ± 2.8 cases/year; median age = 24 months, 25–75 IQR = 11–57 months; males = 27, 53%). For 14 of them, data on diagnosis conclusion were available (classic galactosemia = 4; hereditary fructose intolerance = 4; peroxisomal diseases = 2; PMM2-CDG = 2; MPDU1-CDG = 1; SLC35A2-CDG = 1).Comparing the cases with the normal and altered TfIEF patterns, there was a higher prevalence of altered cases in the age group from 11 months to 3 years. There was an increase in the likelihood of change in TfIEF, especially in the presence of inverted nipples or liver disease. Conclusions: The data suggest that the investigation of a case with suspected CDG is a complex problem, being aggravated by the existence of other IEMs (inborn errors of metabolism) associated with altered TfIEF pattern and lack of access to confirmatory tests. The presence of inverted nipples and liver disease, especially in individuals aged 11 months to 3 years, should suggest the need for TfIEF investigation.Sociedade Brasileira de Pediatria2020-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572020000600710Jornal de Pediatria v.96 n.6 2020reponame:Jornal de Pediatria (Online)instname:Sociedade Brasileira de Pediatria (SBP)instacron:SBPE10.1016/j.jped.2019.05.008info:eu-repo/semantics/openAccessMagalhães,Ana Paula Pereira Scholz deBurin,Maira GraeffSouza,Carolina Fischinger Moura dede Bitencourt,Fernanda HendgesSebastião,Fernanda MedeirosSilva,Thiago OliveiraVairo,Filippo Pinto eSchwartz,Ida Vanessa Doederleineng2020-12-10T00:00:00Zoai:scielo:S0021-75572020000600710Revistahttp://www.jped.com.br/https://old.scielo.br/oai/scielo-oai.php||jped@jped.com.br1678-47820021-7557opendoar:2020-12-10T00:00Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP)false |
dc.title.none.fl_str_mv |
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center, |
title |
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center, |
spellingShingle |
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center, Magalhães,Ana Paula Pereira Scholz de Isoelectric focusing Transferrin Congenital disorders of glycosylation Screening |
title_short |
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center, |
title_full |
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center, |
title_fullStr |
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center, |
title_full_unstemmed |
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center, |
title_sort |
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center, |
author |
Magalhães,Ana Paula Pereira Scholz de |
author_facet |
Magalhães,Ana Paula Pereira Scholz de Burin,Maira Graeff Souza,Carolina Fischinger Moura de de Bitencourt,Fernanda Hendges Sebastião,Fernanda Medeiros Silva,Thiago Oliveira Vairo,Filippo Pinto e Schwartz,Ida Vanessa Doederlein |
author_role |
author |
author2 |
Burin,Maira Graeff Souza,Carolina Fischinger Moura de de Bitencourt,Fernanda Hendges Sebastião,Fernanda Medeiros Silva,Thiago Oliveira Vairo,Filippo Pinto e Schwartz,Ida Vanessa Doederlein |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Magalhães,Ana Paula Pereira Scholz de Burin,Maira Graeff Souza,Carolina Fischinger Moura de de Bitencourt,Fernanda Hendges Sebastião,Fernanda Medeiros Silva,Thiago Oliveira Vairo,Filippo Pinto e Schwartz,Ida Vanessa Doederlein |
dc.subject.por.fl_str_mv |
Isoelectric focusing Transferrin Congenital disorders of glycosylation Screening |
topic |
Isoelectric focusing Transferrin Congenital disorders of glycosylation Screening |
description |
Abstract Objectives: To characterize cases of suspected congenital disorders of glycosylation (CDG) investigated in a laboratory in southern Brazil using the transferrin isoelectric focusing TfIEF test from 2008 to 2017. Method: Observational, cross-sectional, retrospective study. The laboratory records of 1,546 individuals (median age = 36 months, 25–75 IQR = 10–108; males = 810) submitted to the TfIEF test during the period were reviewed. Results: Fifty-one individuals (3%) had an altered TfIEF pattern (5 ± 2.8 cases/year; median age = 24 months, 25–75 IQR = 11–57 months; males = 27, 53%). For 14 of them, data on diagnosis conclusion were available (classic galactosemia = 4; hereditary fructose intolerance = 4; peroxisomal diseases = 2; PMM2-CDG = 2; MPDU1-CDG = 1; SLC35A2-CDG = 1).Comparing the cases with the normal and altered TfIEF patterns, there was a higher prevalence of altered cases in the age group from 11 months to 3 years. There was an increase in the likelihood of change in TfIEF, especially in the presence of inverted nipples or liver disease. Conclusions: The data suggest that the investigation of a case with suspected CDG is a complex problem, being aggravated by the existence of other IEMs (inborn errors of metabolism) associated with altered TfIEF pattern and lack of access to confirmatory tests. The presence of inverted nipples and liver disease, especially in individuals aged 11 months to 3 years, should suggest the need for TfIEF investigation. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-12-01 |
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=S0021-75572020000600710 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0021-75572020000600710 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1016/j.jped.2019.05.008 |
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 Pediatria |
publisher.none.fl_str_mv |
Sociedade Brasileira de Pediatria |
dc.source.none.fl_str_mv |
Jornal de Pediatria v.96 n.6 2020 reponame:Jornal de Pediatria (Online) instname:Sociedade Brasileira de Pediatria (SBP) instacron:SBPE |
instname_str |
Sociedade Brasileira de Pediatria (SBP) |
instacron_str |
SBPE |
institution |
SBPE |
reponame_str |
Jornal de Pediatria (Online) |
collection |
Jornal de Pediatria (Online) |
repository.name.fl_str_mv |
Jornal de Pediatria (Online) - Sociedade Brasileira de Pediatria (SBP) |
repository.mail.fl_str_mv |
||jped@jped.com.br |
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1752122322378031104 |