ArticleClinical kidney journal2025
Czech nationwide screening for Fabry disease in patients on maintenance dialysis: a call for evaluation of population-enriched
Article in Clinical kidney journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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17 authors.
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Abstract
Background: Fabry disease (FD) is a rare disorder caused by variants in the GLA gene encoding α-galactosidase A (GALA), leading to end-stage kidney disease (ESKD), among other health issues. The 2002 Czech nationwide FD screening in ESKD found undiagnosed cases in dialysis patients by examining GALA activity in dried blood spots (DBS). Methods: The second nationwide FD screening (2016-2018; 21-month study) in ESKD patients on maintenance dialysis therapy (MDT) included 112 Czech dialysis units to assess country-wide FD diagnostic guidelines' efficacy in reducing its underdiagnosis. This involved GALA activity and/or lyso-Gb3 levels with Results: The 6352 screened cases represent 93.9% of all MDT patients within the study duration. Eight Conclusions: This is one of the largest FD screening schemes in a European ESKD cohort. Subsequent
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