dc.creator | Guevara O,Carlos | |
dc.creator | Barrientos U,Nelson | |
dc.creator | Flores R,Alex | |
dc.creator | Idiáquez C,Juan | |
dc.date | 2003-10-01 | |
dc.date.accessioned | 2020-02-17T15:33:22Z | |
dc.date.available | 2020-02-17T15:33:22Z | |
dc.identifier | https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872003001000012 | |
dc.identifier.uri | https://revistaschilenas.uchile.cl/handle/2250/130726 | |
dc.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). | |
dc.format | text/html | |
dc.language | es | |
dc.publisher | Sociedad Médica de Santiago | |
dc.relation | 10.4067/S0034-98872003001000012 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.source | Revista médica de Chile v.131 n.10 2003 | |
dc.subject | Amyloid neuropathies | |
dc.subject | Polyneuritis | |
dc.subject | Prealbumin | |
dc.title | Polineuropatía amiloidótica familiar tipo I: Report of one case | |