Compromiso neuropático y autonómico en Enfermedad de Fabry: presentación de casos clínicos

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 ov...

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Autores principales:	Jara,Paula, Matamala,José Manuel, Verdugo,Renato
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2018
Materias:	Fabry Disease Small Fiber Neuropathy Autonomic Nervous System Diseases
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901079
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spelling	oai:scielo:S0034-988720180009010792019-02-13Compromiso neuropático y autonómico en Enfermedad de Fabry: presentación de casos clínicosJara,PaulaMatamala,José ManuelVerdugo,Renato Fabry Disease Small Fiber Neuropathy Autonomic Nervous System Diseases 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.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.146 n.9 20182018-09-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901079es10.4067/s0034-98872018000901079
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Fabry Disease Small Fiber Neuropathy Autonomic Nervous System Diseases
spellingShingle	Fabry Disease Small Fiber Neuropathy Autonomic Nervous System Diseases Jara,Paula Matamala,José Manuel Verdugo,Renato Compromiso neuropático y autonómico en Enfermedad de Fabry: presentación de casos clínicos
description	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.
author	Jara,Paula Matamala,José Manuel Verdugo,Renato
author_facet	Jara,Paula Matamala,José Manuel Verdugo,Renato
author_sort	Jara,Paula
title	Compromiso neuropático y autonómico en Enfermedad de Fabry: presentación de casos clínicos
title_short	Compromiso neuropático y autonómico en Enfermedad de Fabry: presentación de casos clínicos
title_full	Compromiso neuropático y autonómico en Enfermedad de Fabry: presentación de casos clínicos
title_fullStr	Compromiso neuropático y autonómico en Enfermedad de Fabry: presentación de casos clínicos
title_full_unstemmed	Compromiso neuropático y autonómico en Enfermedad de Fabry: presentación de casos clínicos
title_sort	compromiso neuropático y autonómico en enfermedad de fabry: presentación de casos clínicos
publisher	Sociedad Médica de Santiago
publishDate	2018
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000901079
work_keys_str_mv	AT jarapaula compromisoneuropaticoyautonomicoenenfermedaddefabrypresentaciondecasosclinicos AT matamalajosemanuel compromisoneuropaticoyautonomicoenenfermedaddefabrypresentaciondecasosclinicos AT verdugorenato compromisoneuropaticoyautonomicoenenfermedaddefabrypresentaciondecasosclinicos
_version_	1718437025596571648

Compromiso neuropático y autonómico en Enfermedad de Fabry: presentación de casos clínicos

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