Compromiso neuropático y autonómico en Enfermedad de Fabry: presentación de casos clínicos / Neuropathy and Fabry's disease: report of five cases
Rev. méd. Chile
;
146(9): 1079-1084, set. 2018. tab, graf
Artículo
en Español
| LILACS
| ID: biblio-978801
ABSTRACT
Fabry's disease is an X-linked multisistemic lisosomal storage disorder caused by deficiency or absence in α-Galatosidase A. Symptoms develop early in childhood with small fiber neuropathy, autonomic disorders and skin lesions (angiokeratomas). More severe in males, patients develop over years heart disease (hypertrophic cardiomyopathy, bradycardia), proteinuria, renal failure, transient ischemic attacks and stroke, associated with decreased life expectancy. We report five patients with Fabry's disease aged between 21 to 56 years and with family history. Neuropathic symptoms are described and neurophysiological testing findings of nerve conduction studies, quantitative sensory testing, autonomic testing and sympathetic skin response are presented.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Enfermedad de Fabry
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Masculino
Idioma:
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2018
Tipo del documento:
Artículo
País de afiliación:
Chile
Institución/País de afiliación:
Universidad del Desarrollo/CL
Similares
MEDLINE
...
LILACS
LIS