Polineuropatía amiloidótica familiar tipo I: Report of one case

Familial amyloidotic polyneuropathy type I is an autosomal dominant inherited disorder characterized by progressive peripheral and autonomic neuropathy, associated with neural and systemic amyloid deposits. The abnormality usually lies in the transthyretin (TTR) gene. We report a 25 years old man wi...

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Autores principales:	Guevara O,Carlos, Barrientos U,Nelson, Flores R,Alex, Idiáquez C,Juan
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2003
Materias:	Amyloid neuropathies Polyneuritis Prealbumin
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003001000012
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spelling	oai:scielo:S0034-988720030010000122004-12-07Polineuropatía amiloidótica familiar tipo I: Report of one caseGuevara O,CarlosBarrientos U,NelsonFlores R,AlexIdiáquez C,Juan Amyloid neuropathies Polyneuritis Prealbumin Familial amyloidotic polyneuropathy type I is an autosomal dominant inherited disorder characterized by progressive peripheral and autonomic neuropathy, associated with neural and systemic amyloid deposits. The abnormality usually lies in the transthyretin (TTR) gene. We report a 25 years old man with 18 months history of dysesthesias and pain in the toes, abnormal micturition and sexual dysfunction. Neurophysiologically studies disclosed a sensory-motor axonal polyneuropathy. Autonomic tests showed sympathetic and parasympathetic involvement. An electron micrograph of sural nerve revealed amyloid fibrils in the endoneurium. His mother died after a clinical history suggestive, in retrospect, of familial amyloidotic polyneuropathy type I. The clinical and genetic analysis of this cause of polyneuropathy are discussed (Rev Méd Chile 2003; 131: 1179-82).info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.131 n.10 20032003-10-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003001000012es10.4067/S0034-98872003001000012
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Amyloid neuropathies Polyneuritis Prealbumin
spellingShingle	Amyloid neuropathies Polyneuritis Prealbumin Guevara O,Carlos Barrientos U,Nelson Flores R,Alex Idiáquez C,Juan Polineuropatía amiloidótica familiar tipo I: Report of one case
description	Familial amyloidotic polyneuropathy type I is an autosomal dominant inherited disorder characterized by progressive peripheral and autonomic neuropathy, associated with neural and systemic amyloid deposits. The abnormality usually lies in the transthyretin (TTR) gene. We report a 25 years old man with 18 months history of dysesthesias and pain in the toes, abnormal micturition and sexual dysfunction. Neurophysiologically studies disclosed a sensory-motor axonal polyneuropathy. Autonomic tests showed sympathetic and parasympathetic involvement. An electron micrograph of sural nerve revealed amyloid fibrils in the endoneurium. His mother died after a clinical history suggestive, in retrospect, of familial amyloidotic polyneuropathy type I. The clinical and genetic analysis of this cause of polyneuropathy are discussed (Rev Méd Chile 2003; 131: 1179-82).
author	Guevara O,Carlos Barrientos U,Nelson Flores R,Alex Idiáquez C,Juan
author_facet	Guevara O,Carlos Barrientos U,Nelson Flores R,Alex Idiáquez C,Juan
author_sort	Guevara O,Carlos
title	Polineuropatía amiloidótica familiar tipo I: Report of one case
title_short	Polineuropatía amiloidótica familiar tipo I: Report of one case
title_full	Polineuropatía amiloidótica familiar tipo I: Report of one case
title_fullStr	Polineuropatía amiloidótica familiar tipo I: Report of one case
title_full_unstemmed	Polineuropatía amiloidótica familiar tipo I: Report of one case
title_sort	polineuropatía amiloidótica familiar tipo i: report of one case
publisher	Sociedad Médica de Santiago
publishDate	2003
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872003001000012
work_keys_str_mv	AT guevaraocarlos polineuropatiaamiloidoticafamiliartipoireportofonecase AT barrientosunelson polineuropatiaamiloidoticafamiliartipoireportofonecase AT floresralex polineuropatiaamiloidoticafamiliartipoireportofonecase AT idiaquezcjuan polineuropatiaamiloidoticafamiliartipoireportofonecase
_version_	1718436117493055488

Polineuropatía amiloidótica familiar tipo I: Report of one case

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