Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.
J Pediatr (Rio J)
; 96(6): 710-716, 2020.
Article
em En
| MEDLINE
| ID: mdl-31677975
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.Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Transferrina
/
Defeitos Congênitos da Glicosilação
/
Focalização Isoelétrica
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prevalence_studies
/
Risk_factors_studies
Limite:
Humans
/
Infant
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
J Pediatr (Rio J)
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Brasil