TY - JOUR
T1 - Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation
T2 - analysis of a ten-year experience in a Brazilian center
AU - Magalhães, Ana Paula Pereira Scholz de
AU - Burin, Maira Graeff
AU - Souza, Carolina Fischinger Moura de
AU - de Bitencourt, Fernanda Hendges
AU - Sebastião, Fernanda Medeiros
AU - Silva, Thiago Oliveira
AU - Vairo, Filippo Pinto e.
AU - Schwartz, Ida Vanessa Doederlein
N1 - Publisher Copyright:
© 2020 Sociedade Brasileira de Pediatria
PY - 2020/11/1
Y1 - 2020/11/1
N2 - 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.
AB - 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.
KW - Congenital disorders of glycosylation
KW - Isoelectric focusing
KW - Screening
KW - Transferrin
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U2 - 10.1016/j.jped.2019.05.008
DO - 10.1016/j.jped.2019.05.008
M3 - Article
C2 - 31677975
AN - SCOPUS:85082511470
SN - 0021-7557
VL - 96
SP - 710
EP - 716
JO - Jornal de Pediatria
JF - Jornal de Pediatria
IS - 6
ER -