RESUMO
No disponible
Assuntos
Humanos , Feminino , Idoso de 80 Anos ou mais , Convulsões/diagnóstico por imagem , Neuroimagem/métodos , Eletroencefalografia/métodos , Afasia/diagnóstico por imagem , Tomografia Computadorizada de Emissão , Cérebro/diagnóstico por imagem , Cérebro/patologia , Epilepsia do Lobo Temporal/diagnóstico por imagem , Epilepsia do Lobo Temporal/patologiaRESUMO
Narcolepsy is an emblematic, unique disease within sleep disorders that is characterised by excessive daytime sleepiness, cataplexy and other abnormal manifestations of REM sleep. In the last 14 years truly spectacular progress has been made in our knowledge of this disease, since the discovery of its cause, i.e. a loss of the hypothalamic neurons that synthesise hypocretin, a previously unknown neurotransmitter, and its probable aetiopathogenic mechanisms, i.e. an autoimmune process in a patient with very precise immunological characteristics - a specific type of HLA and a specific type of T-cell receptor. The cause of this autoimmune process remains unknown. The definitive treatment - the administration of hypocretin, which is the substance missing in the organism - is still unavailable, but there are powerful drugs for treating its main symptoms, the sleepiness and the cataplexy. Some of these are classic compounds (methylphenidate, clomipramine), while others are more recent (modafinil, venlafaxine, sodium oxybate), but together they allow many patients to experience significant improvements. Lack of knowledge about the disease, both on the part of patients and their relatives as well as physicians, is the reason for the great delay in its diagnosis, with even more dramatic consequences when the disease begins in infancy.
Assuntos
Narcolepsia/diagnóstico , Narcolepsia/tratamento farmacológico , Adolescente , Adulto , Idade de Início , Animais , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/tratamento farmacológico , Doenças Autoimunes/etiologia , Doenças Autoimunes/genética , Doenças Autoimunes/imunologia , Compostos Benzidrílicos/uso terapêutico , Cataplexia/tratamento farmacológico , Cataplexia/etiologia , Criança , Clomipramina/uso terapêutico , Cicloexanóis/uso terapêutico , Diagnóstico Tardio , Modelos Animais de Doenças , Cães , Predisposição Genética para Doença , Antígenos HLA-DQ/genética , Cadeias beta de HLA-DQ/genética , Agonistas dos Receptores Histamínicos/uso terapêutico , Humanos , Hipotálamo/metabolismo , Hipotálamo/patologia , Imunoglobulinas Intravenosas/uso terapêutico , Peptídeos e Proteínas de Sinalização Intracelular/deficiência , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Metilfenidato/uso terapêutico , Modafinila , Narcolepsia/complicações , Narcolepsia/epidemiologia , Narcolepsia/genética , Narcolepsia/imunologia , Narcolepsia/patologia , Neuropeptídeos/deficiência , Neuropeptídeos/metabolismo , Orexinas , Polissonografia , Receptores de Antígenos de Linfócitos T/genética , Oxibato de Sódio/uso terapêutico , Cloridrato de VenlafaxinaRESUMO
Resumen. La narcolepsia es una enfermedad emblemática y única dentro de los trastornos del sueño, caracterizada por excesiva somnolencia diurna, cataplejía y otras manifestaciones anormales del sueño REM. En los últimos 14 años se ha producido un avance espectacular en el conocimiento de esta enfermedad, al descubrirse su causa: una pérdida de las neuronas hipotalámicas que sintetizan hipocretina, un neurotransmisor hasta entonces desconocido; y sus probables mecanismos etiopatogénicos: un proceso autoinmune en un paciente con unas características inmunológicas muy precisas -un tipo especifico de HLA y un tipo específico de receptor de células T-. La causa de este proceso autoinmune está por determinar. El tratamiento definitivo -la administración de hipocretina, la sustancia que falta en el organismo- no está aún disponible, pero existen medicamentos potentes para tratar sus síntomas principales, la somnolencia y la cataplejía, tanto los clásicos (metilfenidato, clomipramina) como los más recientes (modafinilo, venlafaxina, oxibato sódico), con lo que muchos pacientes pueden experimentar una mejoría importante. El desconocimiento de la enfermedad, tanto por los pacientes y sus familiares como por los médicos, es responsable del gran retraso en su diagnóstico, con consecuencias todavía más dramáticas cuando la enfermedad comienza en la infancia (AU)
Summary. Narcolepsy is an emblematic, unique disease within sleep disorders that is characterised by excessive daytime sleepiness, cataplexy and other abnormal manifestations of REM sleep. In the last 14 years truly spectacular progress has been made in our knowledge of this disease, since the discovery of its cause, i.e. a loss of the hypothalamic neurons that synthesise hypocretin, a previously unknown neurotransmitter, and its probable aetiopathogenic mechanisms, i.e. an autoimmune process in a patient with very precise immunological characteristics - a specific type of HLA and a specific type of T-cell receptor. The cause of this autoimmune process remains unknown. The definitive treatment - the administration of hypocretin, which is the substance missing in the organism - is still unavailable, but there are powerful drugs for treating its main symptoms, the sleepiness and the cataplexy. Some of these are classic compounds (methylphenidate, clomipramine), while others are more recent (modafinil, venlafaxine, sodium oxybate), but together they allow many patients to experience significant improvements. Lack of knowledge about the disease, both on the part of patients and their relatives as well as physicians, is the reason for the great delay in its diagnosis, with even more dramatic consequences when the disease begins in infancy (AU)
