Correlación genotipo-fenotipo de pacientes con esclerosis tuberosa de la costa caribe colombiana
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2023
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Ediciones Universidad Simón Bolívar
Facultad de Ciencias Básicas y Biomédicas
Facultad de Ciencias Básicas y Biomédicas
Resumen
Introducción: El complejo esclerosis tuberosa (CET), es una facomatosis dentro del espectro de las enfermedades huérfanas, que se caracteriza por el crecimiento de hamartomas. La morbimortalidad que esta enfermedad conlleva durante toda la vida del paciente le condiciona una gran carga para él, su familia, la comunidad y el sistema de salud. Objetivo: Correlacionar el genotipo-fenotipo de pacientes con CET que consultaron a un hospital neurológico de Cartagena desde 2011 a 2021. Metodología: Se hizo la prueba molecular por NGS de los genes TSC1 y TSC2 a 12 pacientes con diagnóstico clínico definitivo y se obtuvo un resultado positivo en el 83,3%. El rango de edad fue de los 4 a 37 años. No hubo predominio de un género. El inicio de síntomas fue antes del año de edad en el 50% de los casos. No tenían antecedentes familiares. Las manifestaciones neurológicas y dermatológicas fueron las más frecuentes. El gen TSC2 fue el más afectado (66,6%). Conclusión: Siendo una muestra pequeña, no se pudo realizar la correlación. Este el primer estudio colombiano que intenta describirla.
Introduction: Tuberous sclerosis complex (TSC) is a phakomatosis within the spectrum of orphan diseases, which is characterized by the growth of hamartomas. The morbidity and mortality that this disease entails throughout the patient's life places a great burden on him, his family, the community and the health system. Objective: To correlate the genotype-phenotype of patients with TSC who consulted a neurological hospital in Cartagena from 2011 to 2021. Methodology: NGS molecular testing of the TSC1 and TSC2 genes was performed on 12 patients with a definitive clinical diagnosis and a positive result was obtained. in 83.3%. The age range was from 4 to 37 years. There was no predominance of one gender. The onset of symptoms was before one year of age in 50% of the cases. They had no family history. Neurological and dermatological manifestations were the most frequent. The TSC2 gene was the most affected (66.6%). Conclusion: Being a small sample, the correlation could not be made. This is the first Colombian study that attempts to describe it.
Introduction: Tuberous sclerosis complex (TSC) is a phakomatosis within the spectrum of orphan diseases, which is characterized by the growth of hamartomas. The morbidity and mortality that this disease entails throughout the patient's life places a great burden on him, his family, the community and the health system. Objective: To correlate the genotype-phenotype of patients with TSC who consulted a neurological hospital in Cartagena from 2011 to 2021. Methodology: NGS molecular testing of the TSC1 and TSC2 genes was performed on 12 patients with a definitive clinical diagnosis and a positive result was obtained. in 83.3%. The age range was from 4 to 37 years. There was no predominance of one gender. The onset of symptoms was before one year of age in 50% of the cases. They had no family history. Neurological and dermatological manifestations were the most frequent. The TSC2 gene was the most affected (66.6%). Conclusion: Being a small sample, the correlation could not be made. This is the first Colombian study that attempts to describe it.
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Palabras clave
Complejo de esclerosis tuberosa, Genotipo, Fenotipo, Correlación, Tuberous sclerosis complex, Genotype, Phenotype, Correlation
