Isoeletrofocalização da transferrina para investigação das doenças congênitas da glicosilação: análise de dez anos de experiência de um centro brasileiro

Translated title of the contribution: Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

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

Research output: Contribution to journalArticle

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 1546 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.

Translated title of the contributionTransferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center
Original languagePortuguese
JournalJornal de Pediatria
DOIs
StateAccepted/In press - Jan 1 2020

Keywords

  • Congenital disorders of glycosylation
  • Doenças congênitas da glicosilação
  • Isoelectric focusing
  • Isoeletrofocalização
  • Screening
  • Transferrin
  • Transferrina
  • Triagem

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Magalhães, A. P. P. S. D., Burin, M. G., Souza, C. F. M. D., de Bitencourt, F. H., Sebastião, F. M., Silva, T. O., Vairo, F. P. E., & Schwartz, I. V. D. (Accepted/In press). Isoeletrofocalização da transferrina para investigação das doenças congênitas da glicosilação: análise de dez anos de experiência de um centro brasileiro. Jornal de Pediatria. https://doi.org/10.1016/j.jped.2019.05.008