First 2 years of municipal registry of orphan-rare diseases in Cali and identification of some sociodemographic and clinical variables associated with mortality ; Primeros dos años de notificación de las enfermedades huérfanas-raras en Cali e identificación de algunas variables asociadas con la mortalidad

Introduction: In recent years, Colombia recognized orphan diseases as a problem of public health interest and ordered its mandatory notification. Objective: Describe the information on orphan-rare diseases obtained in Cali through SIVIGILA in the first 2 years of registration. Materials and methods: Analytical cross-sectional observational study. Absolute and relative frequencies were calculated. Normality analysis of Shapiro Wilk was performed. Prevalence was calculated. The relationship of different sociodemographic and clinical variables and mortality risk was evaluated, using Generalized Linear Models, the Poisson distribution family, Logarithmic link function and robust variance models. Results: 635 cases were notified, 78 in 2016 for a prevalence of 3,25 / 100.000 and 557 in 2017 for a prevalence of 23,01 / 100.000. Most cases belong to the tax system. The communes with the highest number of cases and the highest prevalence were 17 and 22. Among the first most common orphan-rare diseases, sickle cell disease was the most reported in Cali with 25 cases in 2016 (prevalence 1,04/100.000) and 77 cases in 2017 (prevalence 3,1/100.000). The estimated crude mortality rate for the study period was 0,83 / 100.000, and the diseases with the highest mortality were sickle cell disease in women (0,12 / 100.000) and polyneuropathy in men (0,13 / 100.000). Discussion: It is necessary to carry out and publish in the future, deeper analyzes through the detailed review of medical records and the incorporation of other available sources such as the Individual Registry of Provision of Services (RIPS) and the Unique Registry of Affiliates (RUAF), with in order to reduce the sub-registry and provide the whole community with more precise and detailed information. ; Introducción: en los últimos años Colombia reconoció las enfermedades huérfanas-raras como problema de interés en salud pública y ordenó su notificación obligatoria. Objetivo: describir la información sobre las enfermedades huérfanas-raras obtenida en Cali a través ...