Adrenoleucodistrofia Ligada ao X: Uma Doença Peroxissomal Heterogénea de Diagnóstico Obrigatório

Autores

  • Pedro Lopes das Neves Serviço de Neurologia, Hospital Professor Doutor Fernando Fonseca, Lisboa, Portugal https://orcid.org/0000-0002-5017-9630
  • João Durães Serviço de Neurologia, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal; Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal; Centre for Innovative Biomedicine and Biotechnology (CIBB), Universidade de Coimbra, Coimbra, Portugal; Reference Centre for Inherited Metabolic Disorders, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal https://orcid.org/0000-0001-9671-593X
  • Isabel Monteiro Serviço de Neurologia, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal https://orcid.org/0000-0001-9649-3708
  • Luísa Diogo Reference Centre for Inherited Metabolic Disorders, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal https://orcid.org/0000-0003-3821-6643
  • Maria do Carmo Macário Serviço de Neurologia, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal; Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal; Centre for Innovative Biomedicine and Biotechnology (CIBB), Universidade de Coimbra, Coimbra, Portugal; Reference Centre for Inherited Metabolic Disorders, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal https://orcid.org/0000-0002-8267-2673

DOI:

https://doi.org/10.46531/sinapse/CC/220057/2022

Palavras-chave:

Adrenoleucodistrofia/ diagnóstico, Adrenoleucodistrofia/genética, Adrenoleucodistrofia/ tratamento

Resumo

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.

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Publicado

2024-04-20

Como Citar

1.
Lopes das Neves P, Durães J, Monteiro I, Diogo L, Macário M do C. Adrenoleucodistrofia Ligada ao X: Uma Doença Peroxissomal Heterogénea de Diagnóstico Obrigatório. Sinapse [Internet]. 20 de Abril de 2024 [citado 10 de Dezembro de 2024];22(4):173-8. Disponível em: https://sinapse.pt/index.php/journal/article/view/52

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