DOENÇA DE FABRY
DOI:
https://doi.org/10.5380/rmu.v4i1.52249Palavras-chave:
Doença de FabryResumo
A doença de Fabry (DF) é uma doença de depósito lisossômico, de herança ligada ao cromossomo X, relacionada a mutações no gene da enzima α-galactosidase A (α-GAL), que ocasiona o acúmulo de globotriaosilceramida (GL-3) em diferentes tipos de células, como endotélio, células renais, cardiomiócitos e células do sistema nervoso. O espectro de apresentação da doença é bastante amplo, não tendo correlação direta com a atividade residual da enzima. Os pacientes podem ser desde oligo ou assintomáticos, até os que apresentam o quadro clínico clássico, caracterizado pelo aparecimento precoce de acroparestesias, “crises de Fabry”, angioqueratomas, hipohidrose ou anidrose, e córnea verticilata. Com a progressão da doença, podem ocorrer complicações renais, cardíacas e cerebrovasculares, que são as principais responsáveis pela menor expectativa de vida dos pacientes acometidos. O primeiro passo para o diagnóstico da DF nos homens é a dosagem da atividade enzimática, com posterior confirmação através da presença de mutação no gene da enzima α-GAL. Em mulheres, a atividade enzimática residual é variável, não sendo necessária para a suspeita diagnóstica. O tratamento específico para a DF se dá pela terapia de reposição enzimática (TRE) ou pelo uso de chaperona (migalastat). O tratamento da DF requer uma abordagem multidisciplinar e, principalmente, a instituição precoce do tratamento para possibilitar a mudança da história natural da doença
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