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
Artigo
em Espanhol
| LILACS
| ID: biblio-978801
Biblioteca responsável:
CL1.1
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:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Doença de Fabry
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2018
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Universidad del Desarrollo/CL