Importancia de la TTR met 30 en el diagnóstico de la polineuropatía amiloidótica familiar sin antecedentes familiares

Santos, Maria Céu; Dias, Lucas Teixeira; Esperança, Paula

doi:10.33588/rn.3010.99277

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Unclassified

Year Published

2003

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…L as polineuropatías amiloidóticas familiares (PAF) son enfermedades genéticamente determinadas, autosómicas dominantes, que se caracterizan por el depósito extracelular de fibrillas de amiloide en varios órganos y tejidos, siendo predominante la afectación de los nervios periféricos 1,2 .…”

unclassified

Polineuropatía amiloidótica familiar tipo I: Report of one case

et al. 2003

View full text Add to dashboard Cite

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). (Recibido el 30 de abril, 2003. Aceptado en versión corregida el 25 de agosto, 2003.

show abstract

unclassified