Factores predictores de supervivencia en personas con Fibrosis quística a partir de un registro español de enfermedades raras: Predictive factors of survival in people with Cystic fibrosis from a Spanish registry of rare diseases

• Senay Rueda Nieto ^[1]
  1. [1] Universidad de Murcia

     Universidad de Murcia

     Murcia, España

     
• Localización: Revista española de salud pública, ISSN 1135-5727, ISSN-e 2173-9110, Nº. 99, 2025
• Idioma: español
• Títulos paralelos:
  • Predictive factors of survival in people with Cystic fibrosis from a Spanish registry of rare diseases
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• Resumen
  • español

    FUNDAMENTOS // En España varios trabajos describen la población con Fibrosis quística (FQ) y analizan tendencias de mortalidad, pero pocos determinan factores que influ-yan en la supervivencia. El objetivo de este estudio fue analizar la supervivencia en personas con FQ incluidas en un registro poblacional de enfermedades raras y determinar factores que influyan en ella.MÉTODOS // Se realizó un estudio observacional en personas con diagnóstico confirmado de FQ hasta el 31 de diciembre de 2018 registradas en el Sistema de Información de Enfermedades Raras de la Región de Murcia (SIERrm). Se utilizó el método Kaplan-Meier y la prueba de rangos logarítmicos para estimar y comparar curvas de supervivencia y el modelo de riesgos proporcionales de Cox para calcular los predictores de supervivencia.RESULTADOS // De 192 pacientes registrados en SIERrm a fecha de estudio, 39 fallecieron, siendo la mediana de edad de supervivencia de 26 años. El genotipo de alto riesgo (HR: 5,8 [IC95%: 1,97-16,94]), la insuficiencia pancreática (HR: 5,4 [IC95%: 1,24-23,48]), la colonización crónica por Pseudomonas aeruginosa (HR: 6,8 [IC95%: 1,21-38,54]), la enfermedad hepática relacionada con FQ (HR: 5,0 [IC95%: 1,61-15,61]) y las anomalías óseas (HR: 6,4 [IC95%: 1,91-21,61]) se asociaron con una disminución de la supervivencia (p<0,05). Ajustando el modelo por genotipo, se mantuvo la asociación con el genotipo de alto riesgo, la enfermedad hepática relacionada con FQ y los cambios óseos (p<0,05).CONCLUSIONES // Los registros poblacionales son útiles para identificar pacientes con riesgo de enfermedad grave debido a sus características genéticas y clínicas, y que puedan beneficiarse de tratamientos específicos y recursos sanitarios que influyan en factores que disminuyen la supervivencia

  • English

    BACKGROUND // In Spain, several studies describe the population with cystic fibrosis (CF) and analyze mortality trends, but few determine factors that influence survival. The objective of this study was to analyze survival in people with CF included in a population-based registry of rare diseases and determine factors that influence it.METHODS // An observational study was carried out in people with a confirmed diagnosis of CF until December 31, 2018 registered in the Rare Diseases Information System of the Region of Murcia (SIERrm). The Kaplan-Meier method and the log-rank test were used to estimate and compare survival curves, and the Cox proportional hazards model was used to calculate survival predictors.RESULTS // Of 192 patients registered in SIERrm on the date of the study, 39 died, with the median age of survival being 26 years. The high-risk genotype (HR: 5.8 [95%CI: 1.97-16.94]), pancreatic insufficiency (HR: 5.4 [95%CI: 1.24-23.48]), colonization chronic by Pseudomonas aeruginosa (HR: 6.8 [95%CI: 1.21-38.54]), CF-related liver disease (HR: 5.0 (95%CI: 1.61-15.61]), and bone abnormalities (HR: 6.4 [95%CI: 1.91-21.61]) were associated with decreased survival (p<0.05). Adjusting the model for genotype, the association with high-risk genotype, CF-related liver disease, and bone changes remained (p<0.05).CONCLUSIONS // Population registries are useful to identify patients at risk of serious disease due to their genetic and clinical characteristics, who may benefit from specific treatments and health resources that influence factors that reduce survival.

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