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Revista médica de Chile

versão impressa ISSN 0034-9887

Resumo

JARA, Paula; MATAMALA, José Manuel  e  VERDUGO, Renato. Neuropathy and Fabry's disease. Report of five cases. Rev. méd. Chile [online]. 2018, vol.146, n.9, pp.1079-1084. ISSN 0034-9887.  http://dx.doi.org/10.4067/s0034-98872018000901079.

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.

Palavras-chave : Fabry Disease; Small Fiber Neuropathy; Autonomic Nervous System Diseases.

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