Incidencia y prevalencia en Colombia de las enfermedades osteoarticulares y de origen genético
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Fecha
2021-06
Autores
Arrieta Palis, Daniela Milena
Bermúdez Cadena, Valentina
Gómez Gómez, Adriana Lucia
Medina Ramírez, Melissa Del Carmen
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Ediciones Universidad Simón Bolívar
Facultad de Ciencias de la Salud
Facultad de Ciencias de la Salud
Resumen
Las enfermedades osteoarticulares de origen genético en Colombia, se consideran enfermedades huérfanas, ya que en muchos casos carecen de medicamentos, estudios y tratamiento.
La calidad de vida de las personas que presentan alguna patología de este grupo es muy baja, ya que el paciente se ve afectado en su desarrollo como ser humano, presentándose algunas limitaciones en su vida diaria como, desarrollar actividades motoras, limitaciones laborales, aislamiento social, entre otras, llevándolas a un grado de vulnerabilidad.
Los tratamientos paliativos de estas enfermedades generan unos altos costos al sistema de salud del país y sin embargo sus resultados no son significativos en la mejora de la calidad de vida de las personas.
Objetivos: Estimar la incidencia y prevalencia de las enfermedades osteoarticulares de origen genético en la población colombiana.
Metodología: Se llevó a cabo una investigación documental, no experimental, de tipo cualitativa, longitudinal, retrospectiva, donde se consideraron como fuentes de información y estadística los registros del Ministerio de Salud y Protección Social de Colombia, la Asociación Colombiana de Reumatología y Ortopedia, como también fuentes bibliográficas que reportaban casos específicos sobre el tema.
Resultados: Las enfermedades osteoarticulares y de origen genético son patologías poco frecuentes en Colombia e Iberoamérica, existiendo poco o nada de información acerca de su prevalencia e incidencia en la población. Por otro lado, los métodos diagnósticos más usados son la ecografía prenatal y el estudio de cariotipo. Estos métodos no generan un diagnóstico confiable y la certeza del tipo de enfermedad, por tal razón, en este estudio se propone implementar métodos moleculares de diagnóstico genético, antes de las 12 semanas de gestación.
Conclusiones: En Colombia no hay información en las bases de datos del estado, sobre la prevalencia e incidencia de las enfermedades osteoarticulares de origen genérico.
El sistema de salud colombiano no cuenta con métodos de diagnóstico genético temprano, para las enfermedades osteoarticulares de origen genético.
La implementación de métodos moleculares para el diagnóstico temprano gestacional, con el apoyo de una asesoría médica especializada, permitiría tomar decisiones a los padres, con una base científica y ética sobre el desarrollo del embarazo.
Osteoarticular diseases of genetic origin in Colombia are considered orphan diseases since in many cases they lack medicines, studies and treatment. The quality of life of people who present some pathology in this group is very low since the patient is affected in their development as a human being, with some limitations in your daily life, such as the inability to walk, develop motor skills, work limitations, social isolation, among others, that affect the daily development of a person putting them at a vulnerable level. palliative treatments for these diseases generate high costs for the country's health system, yet their results are not significant in improving people’s quality of life. Objectives: To estimate the incidence and prevalence of osteoarticular diseases of genetic origin in the Colombian population:. Methodology: A documentary, non-experimental, qualitative, longitudinal and retrospective research was carried out, in which the records of the Colombian Ministry of Health and Social Protection were considered as sources of information and statistics, the Colombian Association of Rheumatology and Orthopedics, as well as bibliographic sources that reported specific cases on the subject. Results: osteoarticular diseases and diseases of genetic origin are rare pathologies in Colombia and Latin America, there is little or no information about their prevalence, incidence, treatment and genetic diagnosis, which is evidenced in the bibliographic review carried out. these methods do not generate a reliable diagnosis and certainty of the type of disease, for this reason, in this study it is proposed to implement molecular methods of genetic diagnosis, before 12 weeks of gestation Conclusions: In Colombia, there is no information in the state databases on the prevalence and incidence of osteoarticular diseases of generic origin. The Colombian health system does not have early genetic diagnosis methods for osteoarticular diseases of genetic origin. The implementation of molecular methods for early gestational diagnosis, with the support of specialized medical advice, would allow parents to make decisions, with a scientific and ethical basis on the development of pregnancy.
Osteoarticular diseases of genetic origin in Colombia are considered orphan diseases since in many cases they lack medicines, studies and treatment. The quality of life of people who present some pathology in this group is very low since the patient is affected in their development as a human being, with some limitations in your daily life, such as the inability to walk, develop motor skills, work limitations, social isolation, among others, that affect the daily development of a person putting them at a vulnerable level. palliative treatments for these diseases generate high costs for the country's health system, yet their results are not significant in improving people’s quality of life. Objectives: To estimate the incidence and prevalence of osteoarticular diseases of genetic origin in the Colombian population:. Methodology: A documentary, non-experimental, qualitative, longitudinal and retrospective research was carried out, in which the records of the Colombian Ministry of Health and Social Protection were considered as sources of information and statistics, the Colombian Association of Rheumatology and Orthopedics, as well as bibliographic sources that reported specific cases on the subject. Results: osteoarticular diseases and diseases of genetic origin are rare pathologies in Colombia and Latin America, there is little or no information about their prevalence, incidence, treatment and genetic diagnosis, which is evidenced in the bibliographic review carried out. these methods do not generate a reliable diagnosis and certainty of the type of disease, for this reason, in this study it is proposed to implement molecular methods of genetic diagnosis, before 12 weeks of gestation Conclusions: In Colombia, there is no information in the state databases on the prevalence and incidence of osteoarticular diseases of generic origin. The Colombian health system does not have early genetic diagnosis methods for osteoarticular diseases of genetic origin. The implementation of molecular methods for early gestational diagnosis, with the support of specialized medical advice, would allow parents to make decisions, with a scientific and ethical basis on the development of pregnancy.
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Palabras clave
Enfermedades ostearticulares, Diagnósticos gestacionales, Diagnóstico molecular, Ostearticular diseases, Gestational diagnoses, Molecular diagnosis