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ASPECTOS CLINICOS E TERAPEUTICOS DA POLINEUROPATIA AMILOIDOTICA FAMILIAR

ASPECTOS CLINICOS E TERAPEUTICOS DA POLINEUROPATIA AMILOIDOTICA FAMILIAR

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O transplante hepático é a única terapêutica reconhecida para a polineuropatia amiloidótica familiar, devendo ser indicado precocemente no curso da doença
bittencourt9.jpg Autor:
Bittencourt, Paulo Lisboa
Columnista Experto de SIIC

Institución:
Unidad de Gastroenterología y Hepatología Hospital Portugués de Salvador Bahia, Brasil


Artículos publicados por Bittencourt, Paulo Lisboa
Coautores
Cláudia Alves Couto.*  Anna Carla Goldberg** 
Doutora em Gastroenterologia pela Universidade de São Paulo e Professora Adjunta da Faculdade de Medicina da Universidade Federal de Minas Gerais, Brasil*
Livre Docente em Imunologia pelo Instituto de Ciências Biomédicas da Universidade de São Paulo, Professora Titular Colaboradora do Instituto de Química da Universidade de São Paulo, Brasil**
Recepción del artículo
27 de Mayo, 2004
Aprobación
16 de Septiembre, 2004
Primera edición
24 de Noviembre, 2004
Segunda edición, ampliada y corregida
7 de Junio, 2021

Resumen
A polineuropatia amiloidótica familiar (PAF) é uma amiloidose sistêmica autossômica dominante, associada a variantes de transtirretina amiloidogênica (ATTR), caracterizada clinicamente por quadro de polineuropatia sensitivo-motora ascendente e disautonomia. A doença é progressiva e usualmente fatal 10 a 14 anos após o aparecimento dos sintomas. A principal variante da ATTR encontrada em Portugal, Suécia, Japão, Brasil e Argentina é a ATTR Val30Met, sendo observada, nestas regiões, heterogeneidade clínica da doença, particularmente no que se refere a sua penetrância e à idade ao início dos sintomas. O transplante hepático é a única terapêutica reconhecida para a PAF, devendo ser indicado precocemente no curso da doença. Fatores associados a maior morbimortalidade após o procedimento incluem duração da doença superior a 7 anos, desnutrição e presença de incontinência urinária no pré-operatório do transplante. A sobrevida dos pacientes submetidos a transplante de fígado é de cerca de 75% a 88% em 1 ano e 60% em 5 anos, sendo que a maioria dos pacientes que sobrevive ao procedimento apresenta estabilização ou melhora dos sintomas de PAF.

Palabras clave
Polineuropatia amiloidótica familiar, transplante de fígado, transtirretina, mutações, Val30Met


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Abstract
Familial amyloid polyneuropathy (FAP) is a dominant autosomal inherited amyloidosis secondary to the systemic deposition of amyloid fibrils mainly comprised by amyloidogenic transthyretin (ATTR) variants (1,2). The disease is characterized by an ascending sensorimotor polyneuropathy and progressive disautonomia and is usually fatal 10 to 15 years after its onset. The most common ATTR variant found in Portugal, Sweden, Brazil and Argentina is ATTR Val30Met. Clinical heterogeneity has been reported in patients from different geographical regions carrying this mutation, particularly in respect to disease onset and penetrance. Orthotopic liver transplantation (OLT) is recognized as the only treatment modality available for FAP and should be indicated as early as possible after the onset of FAP symptoms. Several factors have been associated with adverse outcomes after OLT, including longer disease duration, poor nutritional status and the presence of urinary incontinence prior to OLT. Survival after OLT has been reported to be around 75% to 88% at one year and 60% at five years. Most of the patients that survived OLT exhibited stabilization or improvement of FAP symptoms.

Key words
Familial amyloid polyneuropathy, liver transplantation, transthyretin, mutations, Val30Met


Clasificación en siicsalud
Artículos originales > Expertos de Iberoamérica >
página   www.siicsalud.com/des/expertocompleto.php/

Especialidades
Principal: Gastroenterología, Genética Humana
Relacionadas: Inmunología, Medicina Interna, Neurología, Trasplantes



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