Doença de Fabry em pacientes submetidos à hemodiálise no Rio Grande do Sul : estudo de prevalência e relato clínico

AUTOR(ES)

Daiana Benck Porsch

FONTE

IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia

DATA DE PUBLICAÇÃO

2008

RESUMO

Fabry disease (FD) is a lysosomal storage disorder caused by the deficient ¿-galactosidase A (¿-Gal A) activity. Fabry nephropathy typically progresses throughout the fifth decade to endstage renal disease (ESRD) requiring hemodialysis and/or kidney transplantation. Screening for ¿-GAL A activity was performed by a dried blood spot test (normal reference value: >1,5 nmoles/hour/mL). Positive screening results were confirmed by plasma ¿- GAL A activity assay (reference value: >3,3 nmoles/hour/mL). Five hundred and fifty eight male patients under hemodialysis were evaluated. Of these, only two had low ¿-GAL A activity and were diagnosed with Fabry disease (0.36%). One of these, age 42, had left ventricular hypertrophy and renal manifestation of Fabry disease, without the classic symptoms. The other, age 46, presented classical manifestations of angiokeratomas, acroparesthesias, hypohidrose and ocular opacities. Although the prevalence of Fabry disease is very low in our study (0.36%), routine screening of male hemodialysis patients would enable earlier identification of other family members who might benefit from specific clinical treatment.

ASSUNTO(S)

doença de fabry nefropatias

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