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Acta médica Grupo Ángeles
versão impressa ISSN 1870-7203
Resumo
MEDINA DORIA, Ana Carolina et al. High suspicion of congenital metabolic diseases in the population of Jewish descent of Hospital Ángeles Lomas. Acta méd. Grupo Ángeles [online]. 2017, vol.15, n.1, pp.32-35. ISSN 1870-7203.
Background:
The application of the neonatal screening and its extension to diseases not identified by the classic method constitutes a challenge that has led to the application of new technologies, such as the multiple platform and the tandem mass spectrometry. A predisposition to these pathologies has been identified in certain communities not previously studied, like the Jewish one; this makes their study essential for their timely diagnosis.
Objective:
To report the number of neonatal screening assays with suspicious reports for a congenital metabolic disease in those patients of Jewish ascent in the Angeles Lomas Hospital, and to compare it to the rest of the cases.
Material and methods:
We analyzed all the neonatal screenings performed between January 2010 and December 2014 at the Angeles Lomas Hospital. The suspicious results were recorded in a database, analyzing sex and ethnicity.
Results:
4,749 neonatal screenings were analyzed; 1,425 were of Jewish ascendant. One hundred seventy-two screenings were suspicious, but only 27 were consistent in the second test. Of them, 50% of the females and 41% of the males were Jewish.
Conclusion:
We observed an elevated incidence of suspicious cases of congenital diseases in population with Jewish ancestry, especially for G6PD and MCADD.
Palavras-chave : Neonatal screening; congenital hereditary diseases; Jewish population.