Enfermedades de Origen Genético en Pacientes Pediátricos Hospitalizados en la Provincia de Ubate, Colombia

Abstract

Objective Describing genetic disease frequency in a second-level hospital's in-patient paediatric service Methods The hospital's statistical department's records for 2005 were comprehensively reviewed; the study was carried out in the town of Ubaté during 2006. Results Complex diseases led to nearly 25 % of all hospitalisations, including multifactor diseases and congenital malformations. However, an aetiological study and/or geneticist consultation or referral took place on a few occasions. Conclusions Primary care hospitals should become more relevant reference centres for detecting genetic diseases amongst the paediatric population. New mechanisms are needed for implementing this to allow patients access to a geneticist and for an aetiological diagnosis to be made and providing suitable genetic counselling.