Programa cubano de pesquisa neonatal de la hiperplasia suprarrenal congénita: una realidad. 2005-2014
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Date
Subject
Congenital Adrenal Hyperplasia
neonatal screening
17 OH
salt lose
hiperplasia suprarrenal congénita
pesquisa neonatal
17OHP
perdedor de sal
neonatal screening
17 OH
salt lose
hiperplasia suprarrenal congénita
pesquisa neonatal
17OHP
perdedor de sal
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Journal Title
Journal ISSN
Volume Title
Publisher
Intituto Tecnológico de Santo Domingo (INTEC)
Introducción: la hiperplasia suprarrenal congénita (HSC) es el desorden adrenal más común en la infancia y la causa más frecuente de ambigüedad sexual. La forma clásica, que representa los casos más severos de este déficit, se asocia en un 75 % con pérdida de sal. Por otra parte, en los recién nacidos (RN) del sexo femenino se pueden presentar grados severos de virilización de genitales.
Objetivo: presentar los resultados (durante diez años), del Programa Cubano de Pesquisa Neonatal (PN) de la HSC, soportado en un procedimiento inmunoenzimático desarrollado en Cuba.
Resultados: en el período de enero 2005 a diciembre 2014, se han estudiado 1 140 882 RN y se detectaron 56 niños con HSC, para una incidencia de 1:20 373 RN. La cobertura del programa se ha incrementado hasta llegar en el año 2013 al 99.34 % de todos los RN cubanos.
Conclusiones: la existencia del Programa Cubano de PN de HSC, ha permitido estimar la incidencia e incrementar el conocimiento de esta enfermedad. La PN ha posibilitado el diagnóstico precoz en la variedad perdedora de sal, contribuyendo a la disminución de la mortalidad infantil. El Programa ha favorecido a pacientes con formas virilizantes de la enfermedad, mediante la asignación correcta del sexo.
Introduction: Congenital Adrenal Hyperplasia (HSC) is the most common adrenal disorder in childhood and the most frequent cause of sexual ambiguity. The classic form, which represents the most severe causes of this deficit, is associated in 75 % with loss of salt. On the other hand, in the NB of the female sex that present severe degrees of virilization of the genitals. Objective: To present result of the application for ten years of the Cuban Neonatal Research Program of the HSC, supported by an inmmunoenzymatic procedure developed in Cuba. Result: In the period from January 2005 to December 2014, using the UMELISA 17 OH PROGESTERONA NEONATAL, 1 140882 RN were detected, for an incidence of 1:20373 RN. The coverage of the program has been increasing until2013 reaching 99.34 % of all Cuban RN. Conclusion: The existence of the Cuban HSC PN Program, has allowed estimating the incidence and increase knowledge of this disease in our country. PN has made possible the early diagnosis of patients with the salt losing variety, contributing to decrease in infant mortality nationwide. The Program has favored patients with virilizing form of the disease, through the correct assignment of sex.
Introduction: Congenital Adrenal Hyperplasia (HSC) is the most common adrenal disorder in childhood and the most frequent cause of sexual ambiguity. The classic form, which represents the most severe causes of this deficit, is associated in 75 % with loss of salt. On the other hand, in the NB of the female sex that present severe degrees of virilization of the genitals. Objective: To present result of the application for ten years of the Cuban Neonatal Research Program of the HSC, supported by an inmmunoenzymatic procedure developed in Cuba. Result: In the period from January 2005 to December 2014, using the UMELISA 17 OH PROGESTERONA NEONATAL, 1 140882 RN were detected, for an incidence of 1:20373 RN. The coverage of the program has been increasing until2013 reaching 99.34 % of all Cuban RN. Conclusion: The existence of the Cuban HSC PN Program, has allowed estimating the incidence and increase knowledge of this disease in our country. PN has made possible the early diagnosis of patients with the salt losing variety, contributing to decrease in infant mortality nationwide. The Program has favored patients with virilizing form of the disease, through the correct assignment of sex.
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info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
info:eu-repo/semantics/publishedVersion
Source
Science and Health; Vol. 5 No. 1 (2021): Science and Health, january-april; 11-18
Ciencia y Salud; Vol. 5 Núm. 1 (2021): Ciencia y Salud, enero-abril; 11-18
2613-8824
2613-8816
10.22206/cysa.2021.v5i1
Ciencia y Salud; Vol. 5 Núm. 1 (2021): Ciencia y Salud, enero-abril; 11-18
2613-8824
2613-8816
10.22206/cysa.2021.v5i1