Adrenoleucodistrofia Ligada ao X: Uma Doença Peroxissomal Heterogénea de Diagnóstico Obrigatório
DOI:
https://doi.org/10.46531/sinapse/CC/220057/2022Palavras-chave:
Adrenoleucodistrofia/ diagnóstico, Adrenoleucodistrofia/genética, Adrenoleucodistrofia/ tratamentoResumo
A adrenoleucodistrofia ligada ao X (X-ALD) é uma doença peroxissomal rara causada por uma mutação no gene ABCD1, e que compromete a b-oxidação peroxissomal dos ácidos gordos de cadeia muito longa. Tem uma apresentação clínica heterogénea que pode tornar o diagnóstico difícil, com três fenótipos principais: um fenótipo síndrome de Addison-like com insuficiência suprarrenal; a forma mieloneuropática, que progride com uma paraparésia espástica; e uma forma cerebral com desmielinização cerebral potencialmente extensa. As mulheres podem apresentar-se com um fenótipo que se assemelha à forma mieloneuropática, mas com progressão lenta. O reconhecimento e diagnóstico atempados são essenciais, uma vez que o transplante alogénico de células estaminais hematopoiéticas pode estar indicado para a forma cerebral da doença, o fenótico com pior prognóstico. Apresentamos quatro casos clínicos de pacientes com X-ALD seguidos no nosso centro de referência de doenças neurometabólicas, enfatizando as diferentes apresentações clínicas, abordagem diagnóstica, seguimento e possíveis pistas para o diagnóstico.Downloads
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Direitos de Autor (c) 2024 Pedro Lopes das Neves, João Durães, Isabel Monteiro, Luísa Diogo, Maria do Carmo Macário
Este trabalho encontra-se publicado com a Creative Commons Atribuição-NãoComercial 4.0.
