Tamizaje neonatal para fibrosis quística en una muestra de la ciudad de Bogotá


Autoria(s): Amado González, Paula
Contribuinte(s)

Mateus Arbeláez, Heidi Eliana

Fonseca-Mendoza, Dora Janeth

Data(s)

15/12/2011

Resumo

La Fibrosis Quística es la enfermedad autosómica recesiva mas frecuente en caucásicos. En Colombia no se conoce la incidencia de la enfermedad, pero investigaciones del grupo de la Universidad del Rosario indican que podría ser relativamente alta. Objetivo: Determinar la incidencia de afectados por Fibrosis Quística en una muestra de recién nacidos de la ciudad de Bogotá. Metodología: Se analizan 8.297 muestras de sangre de cordón umbilical y se comparan tres protocolos de tamizaje neonatal: TIR/TIR, TIR/DNA y TIR/DNA/TIR. Resultados: El presente trabajo muestra una incidencia de 1 en 8.297 afectados en la muestra analizada. Conclusiones: Dada la relativamente alta incidencia demostrada en Bogotá, se justifica la implementación de Tamizaje Neonatal para Fibrosis Quística en Colombia.

Cystic Fibrosis is the most common autosomic recessive disease in caucasic population. The incidence in Colombia is still unknown, but previous studies at Universidad del Rosario have shown that it is relatively high . Objective: To establish the incidence of the disease on a newborn population from Bogota. Methods: 8.297 cordblood samples were analyzed. Three neonatal screening test protocols were compared: IRT/IRT, IRT/DNA and IRT/DNA/IRT. Results: The present study showed an incidence of 1 in 8.297 for Cystic Fibrosis in the population. Conclusions: Given the relatively high incidence observed in Bogota, Cystic Fibrosis Neonatal screening is advisable for the colombian population.

Formato

application/pdf

Identificador

http://repository.urosario.edu.co/handle/10336/3616

Idioma(s)

spa

Publicador

Facultad de medicina

Direitos

info:eu-repo/semantics/restrictedAccess

Fonte

instname:Universidad del Rosario

reponame:Repositorio Institucional EdocUR

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Palavras-Chave #FIBROSIS QUISTICA - INVESTIGACIONES - BOGOTA (COLOMBIA) #EXAMENES MEDICOS - INVESTIGACIONES - BOGOTA (COLOMBIA) #ENFERMEDADES DE LOS NIÑOS RECIEN NACIDOS - INVESTIGACIONES - BOGOTA (COLOMBIA) #Cystic fibrosis #Neonatal Screening #Tripsinogen #Cord blood
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