Czech nationwide screening for Fabry disease in patients on maintenance dialysis: a call for evaluation of population-enriched <i>GLA</i> gene variants of uncertain significance
This is one of the largest FD screening schemes in a European ESKD cohort. Subsequent <i>in vitro</i> studies proved that the hot VUS is linked to alternative FD pathogenesis, thereby substantiating the utility of combining biomarkers and sequencing/bioinformatics in FD screening. The broad application of FD diagnostic guidelines has reduced its underdiagnosis in ESKD.
Authors
- Marie Pešková (ORCID: https://orcid.org/0000-0002-1148-8131)
- Jana Reiterová
- Karolína Krátká
- Milan Maçek (ORCID: https://orcid.org/0000-0002-5173-5280)
- František Švára (ORCID: https://orcid.org/0000-0002-9189-7524)
- Gabriela Dostálová (ORCID: https://orcid.org/0000-0003-4809-1274)
- Zuzana Němcová (ORCID: https://orcid.org/0000-0002-9743-2736)
- Ivan Rychlík (ORCID: https://orcid.org/0000-0002-4245-5949)
- Michaela Ságová
- Ondřej Viklický (ORCID: https://orcid.org/0000-0003-1049-2195)
- Aleš Linhart (ORCID: https://orcid.org/0000-0002-3372-7850)
- Vladimı́r Tesař (ORCID: https://orcid.org/0000-0001-6982-0689)
- Lidmila Francová (ORCID: https://orcid.org/0000-0001-7374-8704)
- Jan Géryk
- Sylvie Dusilová Sulková (ORCID: https://orcid.org/0000-0001-7022-7970)
- Miroslav Ryba
- Satu Sinikka Pešičková
Institutions
- Charles University (CZ)
- University Hospital in Motol (CZ)
- Krajská Nemocnice Liberec (CZ)
- Nemocnice České Budějovice (CZ)
- Institute of Clinical and Experimental Medicine (CZ)
- B. Braun (Czechia) (CZ)
- Fresenius Medical Care (India) (IN)
- University Hospital Kralovske Vinohrady (CZ)
- General University Hospital in Prague (CZ)
- Liberec Region
Publication Details
- Journal
- Clinical Kidney Journal
- Published
- 2025-05-28
- DOI
- https://doi.org/10.1093/ckj/sfaf167
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.16
Funders
- Alliance for Cancer Gene Therapy
- Univerzita Karlova v Praze