2017, Number 4
Frequency of inborn errors of metabolism on pediatric patients in the Fray Antonio Alcalde Civil Hospital of Guadalajara
García-Morales E, Ferráez-Pech MA, López-Hernández RD, Gutiérrez-Padilla JA, Angulo-Castellanos E, Partido-Ramírez A, Valdez-Núñez AL, Sandoval-Tena M
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Language: Spanish
References: 11
Page: 146-153
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ABSTRACT
Introduction. Inborn errors of metabolism (IEM) are a heterogeneous group of congenital diseases whose importance lies in the elevated morbimortality and the disability of those who have it. More than 600 IEMs have been described, and almost 25% of them affect since the neonatal period. It is important to know its frequency in each hospital unit, as to why the objective is to identify the frequency of inborn errors of metabolism and its relation to gender, gestational age, weight, and age at the time of the sample collection for the metabolic screening test on pediatric patients at the Fray Antonio Alcalde Civil Hospital of Guadalajara.Material and Methods. Observational, cross-sectional, and analytical study performed during the period of September 2015 to August 2016. The patient files of 2,395 3 days old infants' who underwent the wide metabolic screening test were revised. A second confirmation was considered. The rates and frequencies were determined. The relation of variables was searched with Pearson's Chi-squared test through SPSS version 24 software.
Results. The samples of 2,313 infants were reported normal and 82 with suspicion of IEM. On the second sample, 56 were found with no pathologies, 6 were not localized, 4 deaths were registered, 15 were positive for IEM with a rate of 6/1000, and 1 case is still awaiting results. In order of frequency the diagnostics were: 7 Hemoglobinopathy S cases, 1 Bart Hemoglobinopathy case, 3 Glucose-6-phosphate dehydrogenase deficiency cases, 2 congenital suprarenal hyperplasia cases, 1 disorders of amino acids case, 1 congenital hyperthyroidism case. The statistical analysis showed no relation to IEM to gender nor days of age at the time of sample collection, while they were related to gestational age (55/0.006), and weight at the time of the sample collection 71.0/0.000.
Discussion. In this study the rate of 6/1000 was larger to other researches which report 1/1000, perhaps related to the method used and the third level hospital. The frequency of each of the IEMS was no different than those already reported. It is important to emphasize that it was observed that the younger gestational age and lower weight at the time of the sample collection a higher percentage of false positives, which were disproved with a confirmatory test. It proves to be of vital importance to continue with the metabolic screening in these type of institutions, in addition to evaluating if it is pertinent to normalize the gestational age and the weight at the time of the of sample collection in order to avoid false positives.
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