ABSTRACT
En los últimos años hubo un aumento significativo en la prevalencia de las enfermedades alérgicas pese a los avances en la comprensión de la patogénesis, la divulgación de guías para su control y tratamiento y la aparición de nuevos fármacos. La raz ón para este aumento no está totalmente estable cida, pero se considera que múltiples factores ambientales podrían estar involucrados en ello. El aire inspirado contiene numerosos agentes nocivos además de alérgenos ambientales; el asma y la rinitis alérgica son las principales expresiones clínicas respiratorias inmediatas posteriores a su inhalación. En la antropósfera, el entorno de la superficie terrestre habitada por los humanos, se han alterado los equilibrios naturales por la emisión de múltiples sustancias y se ha producido un creciente cambio climático. Este fenómeno global influye en la calidad del aire y consecuentemente en el desarrollo de enfermedades respiratorias. Dado que la bibliografía sobre el tema del control ambiental es muy amplia, y en ocasiones difícil de interpretar para poder realizar indicaciones precisas, válidas y sencillas de cumplir por parte de los pacientes, cuatro sociedades científicas de la República Argentina, dedicadas a este tipo de enfermedades, elaboraron un documento con información de fácil acceso a todo profesional médico que trate asma y/o rinitis, que expone medidas prácticas para los enfermos y alerta a los distintos actores involucrados en la salud pública acerca de las necesidades insatisfechas en este tema tan complejo, a fin de poder elaborar una agenda para su posible resolución.
In recent years there has been a significant increase in the prevalence of allergic diseases despite advances in the understanding of the pathogenesis, the dissemination of guidelines for its management and the emergence of new drugs. The reasons for this increase are not fully established, but it is suggested that multiple environmental factors may be involved. Inhaled air contains numerous harmful agents in addition to environmental allergens. The main immediate respiratory clinical expression after inhaling this contaminated air is asthma and rhinitis. The activity of human beings has altered the outdoor environment by the emission of multiple pollutants and has produced an increasing climate change. It also has a notable impact on the development of respiratory pathology and the modification of air quality. The bibliography on the subject of environmental control is very broad and sometimes difficult to interpret. In order to be able to make precise, valid and simple indications for patients to accomplish with, four scientific societies of the Argentine Republic that deal with this type of diseases, have elaborated a document that contains information of easy access to all medical personal involved in the treatment of patients with asthma and / or rhinitis, that provides practical measures for the patients and the different public health systems about unmet needs in this complex issue.
Subject(s)
Humans , Respiratory Tract Diseases/etiology , Allergens/adverse effects , Environmental Exposure/adverse effects , Asthma/etiology , Climate Change , Risk Factors , Air Pollutants/adverse effectsABSTRACT
Abstract Fabry disease is a rare, X-linked lysosomal storage disorder resulting from deficient α-galactosidase A activity and globotriaosylceramide accumulation throughout the body. This accumulation leads to various clinical disorders, including inner ear lesions, with sensorineural hearing loss and dizziness. Although hearing loss is recognized in these patients, its incidence and natural history have not been characterized. Hearing disorders develop mainly in adulthood, and tinnitus may be an earlier symptom in Fabry disease. A significant incidence of mid- and high-frequency sensorineural hearing loss in affected males is commonly reported, whereas in female carriers, it is much less frequent. In addition, a high incidence of vestibular disorders with dizziness and chronic instability is also observed in these patients. The few studies about the effects of enzyme replacement therapy (ERT) on cochleovestibular symptoms show controversial results. Based on the model of densely stained material accumulation in the inner ear, stria vascularis cell, and organ damage, an early indication of ERT may prevent hearing loss due to the reduction in substrate accumulation.
ABSTRACT
La enfermedad de Fabry es un trastorno de almacenamiento lisosomal hereditario ligado al cromosoma X, ocasionado por el déficit de la enzima alfa galactosidasa A. El conocimiento sobre esta patología, y en particular su manejo médico, ha progresado notablemente en la última década, incluyendo el desarrollo de su tratamiento específico. La presente guía fue desarrollada por profesionales médicos de diversas especialidades involucrados en la atención de pacientes con enfermedad de Fabry. La discusión y análisis de las evidencias científicas disponibles, sumado a la experiencia de cada uno de los participantes, ha permitido desarrollar los conceptos vertidos en esta guía con el objetivo de brindar una herramienta útil para todos los profesionales que asisten a pacientes con enfermedad de Fabry.
Fabry disease is an X-linked hereditary lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A. Knowledge about this disease, and its medical management, has made remarkable progress in the last decade, including the development of its specific treatment. This guide was developed by medical professionals from various specialties involved in the care of patients with Fabry disease. The discussion and analysis of the available scientific evidence, coupled with the experience of each of the participants, has allowed us to develop the concepts included in this guide in order to provide a useful tool for all professionals who care for patients with Fabry disease.