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dc.creatorGuevara O,Carlos
dc.creatorBarrientos U,Nelson
dc.creatorFlores R,Alex
dc.creatorIdiáquez C,Juan
dc.date2003-10-01
dc.date.accessioned2020-02-17T15:33:22Z
dc.date.available2020-02-17T15:33:22Z
dc.identifierhttps://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872003001000012
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/130726
dc.descriptionFamilial 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).
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dc.languagees
dc.publisherSociedad Médica de Santiago
dc.relation10.4067/S0034-98872003001000012
dc.rightsinfo:eu-repo/semantics/openAccess
dc.sourceRevista médica de Chile v.131 n.10 2003
dc.subjectAmyloid neuropathies
dc.subjectPolyneuritis
dc.subjectPrealbumin
dc.titlePolineuropatía amiloidótica familiar tipo I: Report of one case


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