Late diagnosis of Fabry Disease in hemodialysis patient

Keywords: сase report, Fabry Disease, End Stage Renal Disease

Abstract

The Fabry Disease in young white man with End Stage Renal Disease was reported. Diagnosis was detected at stage of hemodialysis treatment despite sings which admitted as clinical criteria were found at childhood but did not identify during 20 years due limited awareness of medical community about lysosomal disorders.

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References

The Online Metabolic and Molecular Bases of Inherited disease (OMMBID). Available from:https://ommbid.mhmedical.com/book.aspx?bookID=971

Orpha.net. Available from: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=324.0

Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document. Orphanet J. Rare Diseases. 2015;10:36. doi:  10.1186/s13023-015-0253-6.

OrtizA, GermainbDP, DesnickcRJ, PoliteidJ, MauereM, BurlinafA, EnggC, etal. Fabrydiseaserevisited: managementandtreatmentrecommendationsforadultpatients. Mol. Genet. Metab. 2018;123:416–27. doi: 10.1016/j.ymgme.2018.02.014.

HopkinRJ, JefferiesJL, LaneyDA, et al., The management and treatment of children with Fabry disease: a United States-based perspective, Mol. Genet. Metab. 117 (2016) 104–113. doi: 10.1016/j.ymgme.2015.10.007.

Terryn W, Cochat P, Froissart R, Ortiz A, Pirson Y, Poppe B, Serra A, et al.Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice. Nephrol. Dial. Transplant. 2013;28:505–17. doi: 10.1093/ndt/gfs526.

Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO)Controversies Conference. Kidney International. 2017;91:284-93. doi: 10.1016/j.kint.2016.10.004.

Published
2019-03-04
How to Cite
Fomina, S., & Ovska, O. (2019). Late diagnosis of Fabry Disease in hemodialysis patient . Ukrainian Journal of Nephrology and Dialysis, (2(62), 48-53. https://doi.org/10.31450/ukrjnd.2(62).2019.07