Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center
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...
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| Format: | Article |
| Language: | Portuguese |
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Brazilian Society of Pediatrics
2020-11-01
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| Series: | Jornal de Pediatria (Versão em Português) |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S225555361930196X |
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| author | Ana Paula Pereira Scholz de Magalhães Maira Graeff Burin Carolina Fischinger Moura de Souza Fernanda Hendges de Bitencourt Fernanda Medeiros Sebastião Thiago Oliveira Silva Filippo Pinto e Vairo Ida Vanessa Doederlein Schwartz |
| author_facet | Ana Paula Pereira Scholz de Magalhães Maira Graeff Burin Carolina Fischinger Moura de Souza Fernanda Hendges de Bitencourt Fernanda Medeiros Sebastião Thiago Oliveira Silva Filippo Pinto e Vairo Ida Vanessa Doederlein Schwartz |
| author_sort | Ana Paula Pereira Scholz de Magalhães |
| collection | DOAJ |
| description | 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. Resumo: Objetivos: Caracterizar os casos com suspeita de CDG investigados em laboratório do sul do Brasil pelo exame de IEFTF de 2008 a 2017. Metodologia: Estudo observacional, transversal, retrospectivo. Foram revisadas as fichas laboratoriais de 1.546 indivíduos (mediana de idade = 36 meses, IQ 25‐75 = 10‐108; sexo masculino = 810) que fizeram o exame de IEFTF no período. Resultados: Cinquenta e um indivíduos (3%) apresentaram padrão alterado na IEFTF (5 ± 2,8 casos/ano; mediana de idade = 24 meses, IQ 25‐75 = 11‐57 meses; sexo masculino = 27, 53%). Para 14 deles, estavam disponíveis dados sobre a conclusão do diagnóstico (galactosemia clássica = 4; intolerância hereditária à frutose = 4; doenças peroxissomais = 2; PMM2‐CDG = 2; MPDU1‐CDG = 1; SLC35A2‐CDG = 1). Comparando os casos com padrão normal e alterado na IEFTF, houve maior prevalência de casos alterados na faixa etária de 11 meses a 3 anos. Verificou‐se um aumento na probabilidade de alteração na IEFTF principalmente na presença de mamilos invertidos ou de hepatopatia. Conclusões: Os nossos dados sugerem que a investigação de um caso com suspeita de CDG é complexa, é agravada pela existência de outros EIM associados a padrão alterado na IEFTF e pela falta de acesso a exames confirmatórios. A presença principalmente de mamilos invertidos e de hepatopatia em indivíduos na faixa etária de 11 meses a 3 anos deve sugerir a necessidade de investigação por IEFTF. |
| first_indexed | 2024-04-13T14:03:35Z |
| format | Article |
| id | doaj.art-ba537b9075d24652868ef0d9b035e274 |
| institution | Directory Open Access Journal |
| issn | 2255-5536 |
| language | Portuguese |
| last_indexed | 2024-04-13T14:03:35Z |
| publishDate | 2020-11-01 |
| publisher | Brazilian Society of Pediatrics |
| record_format | Article |
| series | Jornal de Pediatria (Versão em Português) |
| spelling | doaj.art-ba537b9075d24652868ef0d9b035e2742022-12-22T02:44:00ZporBrazilian Society of PediatricsJornal de Pediatria (Versão em Português)2255-55362020-11-01966710716Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian centerAna Paula Pereira Scholz de Magalhães0Maira Graeff Burin1Carolina Fischinger Moura de Souza2Fernanda Hendges de Bitencourt3Fernanda Medeiros Sebastião4Thiago Oliveira Silva5Filippo Pinto e Vairo6Ida Vanessa Doederlein Schwartz7Universidade Federal do Rio Grande do Sul (UFRGS), Programa de Pós‐Graduação em Ciências Médicas, Porto Alegre, RS, Brasil; Hospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, BrasilHospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, BrasilHospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, BrasilHospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, BrasilUniversidade Federal do Rio Grande do Sul (UFRGS), Programa de Pós‐Graduação em Ciências Médicas, Porto Alegre, RS, Brasil; Hospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, BrasilHospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, BrasilMayo Clinic, Departament of Clinical Genomics, Rochester, EUA; Mayo Clinic, Center for Individualized Medicine, Rochester, EUAUniversidade Federal do Rio Grande do Sul (UFRGS), Programa de Pós‐Graduação em Ciências Médicas, Porto Alegre, RS, Brasil; Hospital de Clínicas de Porto Alegre (HCPA), Serviço de Genética Médica, Porto Alegre, RS, Brasil; Universidade Federal do Rio Grande do Sul (UFRGS), Departamento de Genética, Porto Alegre, RS, Brasil; Autor para correspondência.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. Resumo: Objetivos: Caracterizar os casos com suspeita de CDG investigados em laboratório do sul do Brasil pelo exame de IEFTF de 2008 a 2017. Metodologia: Estudo observacional, transversal, retrospectivo. Foram revisadas as fichas laboratoriais de 1.546 indivíduos (mediana de idade = 36 meses, IQ 25‐75 = 10‐108; sexo masculino = 810) que fizeram o exame de IEFTF no período. Resultados: Cinquenta e um indivíduos (3%) apresentaram padrão alterado na IEFTF (5 ± 2,8 casos/ano; mediana de idade = 24 meses, IQ 25‐75 = 11‐57 meses; sexo masculino = 27, 53%). Para 14 deles, estavam disponíveis dados sobre a conclusão do diagnóstico (galactosemia clássica = 4; intolerância hereditária à frutose = 4; doenças peroxissomais = 2; PMM2‐CDG = 2; MPDU1‐CDG = 1; SLC35A2‐CDG = 1). Comparando os casos com padrão normal e alterado na IEFTF, houve maior prevalência de casos alterados na faixa etária de 11 meses a 3 anos. Verificou‐se um aumento na probabilidade de alteração na IEFTF principalmente na presença de mamilos invertidos ou de hepatopatia. Conclusões: Os nossos dados sugerem que a investigação de um caso com suspeita de CDG é complexa, é agravada pela existência de outros EIM associados a padrão alterado na IEFTF e pela falta de acesso a exames confirmatórios. A presença principalmente de mamilos invertidos e de hepatopatia em indivíduos na faixa etária de 11 meses a 3 anos deve sugerir a necessidade de investigação por IEFTF.http://www.sciencedirect.com/science/article/pii/S225555361930196XIsoeletrofocalizaçãoTransferrinaDoenças congênitas da glicosilaçãoTriagem |
| spellingShingle | Ana Paula Pereira Scholz de Magalhães Maira Graeff Burin Carolina Fischinger Moura de Souza Fernanda Hendges de Bitencourt Fernanda Medeiros Sebastião Thiago Oliveira Silva Filippo Pinto e Vairo Ida Vanessa Doederlein Schwartz Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center Jornal de Pediatria (Versão em Português) Isoeletrofocalização Transferrina Doenças congênitas da glicosilação Triagem |
| title | 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_short | 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 |
| topic | Isoeletrofocalização Transferrina Doenças congênitas da glicosilação Triagem |
| url | http://www.sciencedirect.com/science/article/pii/S225555361930196X |
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