Hereditary transthyretin amyloidosis is a multisystemic autosomal dominant genetic disorder characterized by progressive distal sensory-motor polyneuropathy or restrictive cardiomyopathy, secondary to amyloid deposits. Its pathogenesis lies in the TTR gene mutation, and the Val50Met mutation is the most ...
Resumo Fundamento Amiloidose sistêmica é uma doença com manifestações clínicas diversas. O diagnóstico envolve suspeita clínica, aliada a métodos complementares. Objetivo Descrever o perfil clínico, laboratorial, eletrocardiográfico e de imagem no acometimento cardíaco da amiloidose sist...
Amyloidosis are characterized by mutations in the gene coding for transthyretin (TTR), located on chromosome 18. TTR is a set of four 127-aminoacid polypeptides structured as homotetrameric protein of 56 kDa with a secondary ß sheet structure. It plays the role of thyroxin (T4) carrier, and has a bindin...
CONTEXTO: A polineuropatia amiloidótica familiar relacionada à transtirretina (PAF-TTR) é uma doença genética neurodegenerativa progressiva altamente incapacitante, irreversível e fatal. As manifestações clínicas são variadas, mas a principal disfunção é uma polineuropatia sensório-motora e...
Abstract Background: Amyloidosis is a disease caused by deposits of insoluble fibrils in extracellular spaces. The most common type of familial amyloidosis is mediated by mutation of transthyretin, especially Val30Met. Symptoms and ejection fraction decrease may occur in cardiac amyloidosis only in case...
La polineuropatía amiloidótica familiar asociada a transtiretina (PAF-TTR) es una enfermedad hereditaria con distribución geográfica variable. El objetivo de este trabajo fue presentar nuestra experiencia con pacientes con PAF-TTR. Se evaluaron retrospectivamente 9 casos pertenecientes a diferentes f...
