Uso del test de cuantificación sensitiva para el estudio de la neuropatía de fibra pequeña


Autoria(s): Díaz Campos, Andrés; Castro, José; Conceição, Isabel
Contribuinte(s)

Gómez Mazuera, Angela

Data(s)

16/01/2014

Resumo

Introducción La mutación genética Val30Met de la proteína transtiretina (TTR) es causante de la polineuropatía amiloidótica familiar, comprometiendo en fases iniciales las fibras nerviosas pequeñas (mielinizadas Aδ y amielínicas tipo C), involucradas en funciones autonómicas, nocicepción, percepción térmica y sudoración. Los métodos neurofisiológicos convencionales, no logran detectar dichas anormalidades, retardando el inicio de tratamientos específicos para la enfermedad. Metodología El objetivo principal fue evaluar el test de cuantificación sensitiva (QST) como método de detección temprana de anormalidades de fibra pequeña, en individuos Val30Met, seguidos en el Hospital Universitario Santa María, Lisboa. Se clasificaron los pacientes en 3 grupos, según sintomatología y examen neurológico. Se analizaron los umbrales para percepción de frío, dolor con el calor y vibración en los grupos, en correlación con controles sanos. Resultados 18 registros de controles sanos y 33 de individuos con la mutación, divididos en asintomáticos (24,2%), sintomáticos con examen neurológico normal (42,4%) y sintomáticos con examen neurológico anormal (33,3%). No se encontraron diferencias entre los pacientes asintomáticos y los controles. Los umbrales para frío (p=0,042) y en el dolor intermedio con el calor (HP 5) (p=0,007) se encuentran elevados en individuos Val30Met sintomáticos con examen normal. En los pacientes sintomáticos con alteraciones al examen, también se presentaron alteraciones en el intervalo entre el inicio y el dolor intermedio con el calor (HP 5-0,5) (p=0,009). Discusión Los umbrales de frío y de percepción de dolor con el calor, permiten detectar anormalidades en personas con la mutación TTR Val30Met, sintomáticos, incluyendo aquellos sin cambios objetivos al examen neurológico.

International Federation of Clinical Neurophysiology

Introduction The small fiber neuropathies alter myelinized Aδ fibers and non-myelinized type C fibers, involved in autonomic functions, nociception, thermal perception and sweating. Genetic mutation TTR-Val30Met a most common etiology of Familial Amyloid Polineuropathy, compromised earlier the small nerve fibers. Conventional neurophysiological studies are unable to detect those abnormalities, delaying specific treatments. Methods The main goal of the present study was to evaluate the Quantitative Sensory Testing –QST, as an early diagnostic tool, identifying abnormalities in patients with the genetic mutationVal30Met in transthyretin (TTR) gene, followed at Santa María Hospital, Lisbon, Portugal. Patients were classified in 3 groups according to symptoms and neurological examination. Thresholds for cold perception, heat-pain and vibration were assessed in the different groups, compared to healthy controls. Results 33 cases and 18 controls, divided in asymptomathic (24.2%), symptomatic with normal neurological examination (42.4%) and symptomatic with abnormal neurological examination (33.3%). There were no differences between asymptomatic patients and healthy controls. The abnormalities on cold threshold detection (p=0,042) and intermediate severity of heat-pain response (HP5) (p=0,007), can occur before changes in the neurological examination. In patients with abnormal neurological examination differences also include the stimulus-response slope (HP 5-0,5) between intermediate severity (HP 5.0) and onset perception of pain with heat (HP 0.5) (p=0,009). Discussion The Quantitative Sensory Testing showed to be a useful tool in the detection of earlier abnormalities in patients withTTR Val30Met mutation.

Formato

application/pdf

Identificador

http://repository.urosario.edu.co/handle/10336/4963

Idioma(s)

spa

Publicador

Facultad de Medicina

Direitos

info:eu-repo/semantics/openAccess

Fonte

reponame:Repositorio Institucional EdocUR

instname:Universidad del Rosario

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Palavras-Chave #Amiloidosis familiar #Polineuropatía paraneoplásica #Supresión genética #amilial amyloidotic polyneuropathy #small fiber #hreshold #heat #cold #vibration
Tipo

info:eu-repo/semantics/bachelorThesis

info:eu-repo/semantics/acceptedVersion